NGI Uppsala (SNP&SEQ Technology Platform)

JSON
CSV
XLSX
TXT

SciLifeLab Infrastructure Unit 2013–2019.

Primary: Shown in the list of current labels, if end date is not specified.

Started: 2013

Ended: 2019

Year 2024

PubMed DOI Crossref
The evolutionary history of metastatic pancreatic neuroendocrine tumours reveals a therapy driven route to high-grade transformation.
Backman S, Botling J, Nord H, ..., Åkerström T, Crona J
J. Pathol. 264 (4) 357-370 [2024-12-00; online 2024-10-03]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics Uppsala [Collaborative] NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Lifestyle, biological, and genetic factors related to brain iron accumulation across adulthood.
Gustavsson J, Ištvánfyová Z, Papenberg G, ..., Mangialasche F, Kalpouzos G
Neurobiol. Aging 144 (-) 56-67 [2024-12-00; online 2024-09-10]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomics of severe and treatment-resistant obsessive-compulsive disorder treated with deep brain stimulation: A preliminary investigation.
Chen LL, Naesström M, Halvorsen M, ..., Crowley JJ, Pascal D
Am. J. Med. Genet. B Neuropsychiatr. Genet. 195 (8) e32983 [2024-12-00; online 2024-04-22]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genomic signals of adaptation to a natural CO2 gradient over a striking microgeographic scale
González-Delgado S, Pérez-Portela R, Ortega-Martínez O, ..., Pereyra RT, Hernández JC
Marine Pollution Bulletin 209 (-) 117225 [2024-12-00; online 2024-12-00]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genetic diversity insights from population genomics and machine learning tools for Nordic Arctic charr (Salvelinus alpinus) populations
Palaiokostas C, Kurta K, Pappas F, ..., Janhunen M, Kause A
Aquaculture Reports 39 (-) 102495 [2024-12-00; online 2024-12-00]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives.
Samola Winnberg J, Vermani L, Liu W, ..., Lindblad M, Lindblom A
Hered Cancer Clin Pract 22 (1) 25 [2024-11-14; online 2024-11-14]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Perfluorooctanesulfonic acid (PFOS) induced cancer related DNA methylation alterations in human breast cells: A whole genome methylome study.
Pierozan P, Höglund A, Theodoropoulou E, Karlsson O
Sci. Total Environ. 949 (-) 174864 [2024-11-01; online 2024-07-20]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The non-canonical BAF chromatin remodeling complex is a novel target of spliceosome dysregulation in SF3B1-mutated chronic lymphocytic leukemia.
Hägerstrand D, Oder B, Cortese D, ..., Sutton LA, Rosenquist R
Leukemia 38 (11) 2429-2442 [2024-11-00; online 2024-09-11]
Bioinformatics Support for Computational Resources [Service] Global Proteomics and Proteogenomics [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM, Cederroth H, Taylan F, ..., Cederroth M, Nordgren A
Nat. Genet. 56 (11) 2287-2294 [2024-11-00; online 2024-10-22]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics Gothenburg [Service] Clinical Genomics Stockholm [Service] Clinical Genomics Uppsala [Collaborative] NGI Long read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic and functional characterization of the Atlantic salmon gut microbiome in relation to nutrition and health.
Vera-Ponce de León A, Hensen T, Hoetzinger M, ..., Pope PB, La Rosa SL
Nat Microbiol 9 (11) 3059-3074 [2024-11-00; online 2024-10-14]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Characterization of Pediatric Acute Myeloid Leukemia With t(7;12)(q36;p13)
Östlund A, Waraky A, Staffas A, ..., Abrahamsson J, Palmqvist L
Genes Chromosomes Cancer 63 (11) - [2024-11-00; online 2024-11-07]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenome-wide analysis across the development span of pediatric acute lymphoblastic leukemia: backtracking to birth.
Ghantous A, Nusslé SG, Nassar FJ, ..., Munthe-Kaas MC, Herceg Z
Mol. Cancer 23 (1) 238 [2024-10-23; online 2024-10-23]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
High rate of gene family evolution in proximity to the origin of ectomycorrhizal symbiosis in Inocybaceae.
Khan FK, Sánchez-García M, Johannesson H, Ryberg M
New Phytol. 244 (1) 219-234 [2024-10-00; online 2024-08-07]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comparative proteomic analyses of potato leaves from field-grown plants grown under extremely long days.
Resjö S, Willforss J, Large A, ..., Levander F, Andreasson E
Plant Physiol Biochem 215 (-) 109032 [2024-10-00; online 2024-08-10]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] Swedish Metabolomics Centre (SMC) [Service]
PubMed DOI Crossref
Associations between epigenetic aging and diabetes mellitus in a Swedish longitudinal study.
Wikström Shemer D, Mostafaei S, Tang B, ..., Fall T, Hägg S
Geroscience 46 (5) 5003-5014 [2024-10-00; online 2024-06-27]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
"Metagenomics reveal the potential for geosmin and 2-methylisoborneol production across multiple bacterial phyla in recirculating aquaculture systems".
Zheng D, Wilén BM, Öberg O, Wik T, Modin O
Environ. Microbiol. 26 (10) e16696 [2024-10-00; online 2024-10-09]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The European Reference Genome Atlas: piloting a decentralised approach to equitable biodiversity genomics.
Mc Cartney AM, Formenti G, Mouton A, ..., Waterhouse RM, Mazzoni CJ
NPJ Biodivers 3 (1) 28 [2024-09-17; online 2024-09-17]
Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Long read [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genetic differentiation and diversity do not explain variation in heterosis or inbreeding depression: empirical evidence from a long-lived iteroparous plant
Söderquist L, Karrenberg S, Sletvold N
Conserv Genet - (-) - [2024-09-17; online 2024-09-17]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases.
Bianchi M, Kozyrev SV, Notarnicola A, ..., Lindblad-Toh K, with the DISSECT consortium and the ImmunoArray consortium
Arthritis & rheumatology (Hoboken, N.J.) - (-) - [2024-09-16; online 2024-09-16]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mosaic loss of Y chromosome and the association to mortality in Danish men aged 56-100 years.
Hozakowska-Roszkowska DM, Mengel-From J, Hristozova TK, ..., Röttger R, Nygaard M
Mech Ageing Dev 222 (-) 111979 [2024-09-16; online 2024-09-16]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Enrichment of Cis-Acting Regulatory Elements in Differentially Methylated Regions Following Lipopolysaccharide Treatment of Bovine Endometrial Epithelial Cells.
Jhamat N, Guo Y, Han J, ..., Andersson G, Niazi A
Int J Mol Sci 25 (18) - [2024-09-11; online 2024-09-11]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Loss of Lamin A leads to the nuclear translocation of AGO2 and compromised RNA interference.
Lobo V, Nowak I, Fernandez C, ..., Angeletti D, Sarshad AA
Nucleic Acids Res. 52 (16) 9917-9935 [2024-09-09; online 2024-07-12]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Male-biased recombination at chromosome ends in a songbird revealed by precisely mapping crossover positions.
Zhang H, Lundberg M, Ponnikas S, Hasselquist D, Hansson B
G3 (Bethesda) 14 (9) - [2024-09-04; online 2024-07-10]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures.
Zhou W, Ås J, Shore-Lorenti C, ..., Ebeling PR, Zillikens MC
J. Bone Miner. Res. 39 (9) 1315-1326 [2024-09-02; online 2024-08-10]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptomic and functional analyses on a Botrytis cinerea multidrug-resistant (MDR) strain provides new insights into the potential molecular mechanisms of MDR and fitness.
Sofianos G, Piombo E, Dubey M, ..., Karaoglanidis G, Tzelepis G
Mol. Plant Pathol. 25 (9) e70004 [2024-09-00; online 2024-09-08]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Species-genetic diversity correlation in a metacommunity of urban pond invertebrates
Johansson F, Yildirim Y, Hyseni C, ..., Höglund J, Bini LM
Basic and Applied Ecology 79 (-) 114-122 [2024-09-00; online 2024-09-00]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
An intronic copy number variation in Syntaxin 17 determines speed of greying and melanoma incidence in Grey horses.
Rubin CJ, Hodge M, Naboulsi R, ..., Lindgren G, Andersson L
Nat Commun 15 (1) 7510 [2024-08-29; online 2024-08-29]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Polygenic Risk Scores and Twin Concordance for Schizophrenia and Bipolar Disorder.
Song J, Pasman JA, Johansson V, ..., Hultman CM, Sullivan PF
JAMA Psychiatry - (-) - [2024-08-28; online 2024-08-28]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
BaTwa populations from Zambia retain ancestry of past hunter-gatherer groups.
Breton G, Barham L, Mudenda G, ..., Schlebusch CM, Jakobsson M
Nat Commun 15 (1) 7307 [2024-08-24; online 2024-08-24]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics Gothenburg [Collaborative] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Massively parallel analysis of single-molecule dynamics on next-generation sequencing chips.
Aguirre Rivera J, Mao G, Sabantsev A, ..., Jinek M, Deindl S
Science 385 (6711) 892-898 [2024-08-23; online 2024-08-22]
NGI Short read [Technology development] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
CDK8 of the mediator kinase module connects leaf development to the establishment of correct stomata patterning by regulating the levels of the transcription factor SPEECHLESS (SPCH).
Hermida-Carrera C, Vergara A, Cervela-Cardona L, ..., Björklund S, Strand Å
Plant Cell Environ. - (-) - [2024-08-23; online 2024-08-23]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
FOXO-regulated OSER1 reduces oxidative stress and extends lifespan in multiple species.
Song J, Li Z, Zhou L, ..., Rasmussen LJ, Dai F
Nat Commun 15 (1) 7144 [2024-08-21; online 2024-08-21]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Decrease due to pollution in the rhizosphere microbial diversity can be amended by supplementation from adapted plants of another species.
Fetsiukh A, Pall T, Timmusk S
Sci Rep 14 (1) 18806 [2024-08-13; online 2024-08-13]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The genetic architecture of dog ownership: large-scale genome-wide association study in 97,552 European-ancestry individuals.
Gong T, Karlsson R, Yao S, ..., Fall T, Almqvist C
G3 (Bethesda) 14 (8) - [2024-08-07; online 2024-05-31]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Why we thrive beneath a northern sky - genomic signals of selection in apple for adaptation to northern Sweden.
Skytte Af Sätra J, Garkava-Gustavsson L, Ingvarsson PK
Heredity (Edinb) 133 (2) 67-77 [2024-08-00; online 2024-06-04]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Selection against domestication alleles in introduced rabbit populations.
Andrade P, Alves JM, Pereira P, ..., Andersson L, Carneiro M
Nat Ecol Evol 8 (8) 1543-1555 [2024-08-00; online 2024-06-21]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Dominance between self-incompatibility alleles determines the mating system of Capsella allopolyploids.
Duan T, Zhang Z, Genete M, ..., Castric V, Vekemans X
Evolution Letters 8 (4) 550-560 [2024-08-00; online 2024-03-17]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing.
Lysenkova Wiklander M, Arvidsson G, Bunikis I, ..., Ameur A, Nordlund J
Life Sci. Alliance 7 (8) - [2024-08-00; online 2024-05-22]
Bioinformatics Support for Computational Resources [Service] NGI Long read [Collaborative] NGI Short read [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
A pipeline for identification of causal mutations in barley identifies Xantha-j as the chlorophyll synthase gene.
Stuart D, Zakhrabekova S, Jørgensen ME, Dockter C, Hansson M
Plant Physiol. 195 (4) 2877-2890 [2024-07-31; online 2024-04-17]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The rate of W chromosome degeneration across multiple avian neo-sex chromosomes.
Sigeman H, Downing PA, Zhang H, Hansson B
Sci Rep 14 (1) 16548 [2024-07-17; online 2024-07-17]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DNA methylation of exercise-responsive genes differs between trained and untrained men.
Geiger C, Needhamsen M, Emanuelsson EB, ..., Reitzner SM, Lindholm ME
BMC Biol. 22 (1) 147 [2024-07-04; online 2024-07-04]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Limited Parallelism in Genetic Adaptation to Brackish Water Bodies in European Sprat and Atlantic Herring.
Pettersson ME, Quintela M, Besnier F, ..., Glover KA, Andersson L
Genome Biol Evol 16 (7) - [2024-07-03; online 2024-06-26]
Bioinformatics Support for Computational Resources [Service] NGI Long read [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Comparative Genomic Analysis of the Pattern of Evolution of Male and Female Reproductive Proteins in Seed Beetles.
Papachristos K, Sayadi A, Arnqvist G
Genome Biol Evol 16 (7) - [2024-07-03; online 2024-06-28]
Bioinformatics Long-term Support WABI [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Predicting type 2 diabetes via machine learning integration of multiple omics from human pancreatic islets.
Rönn T, Perfilyev A, Oskolkov N, Ling C
Sci Rep 14 (1) 14637 [2024-06-25; online 2024-06-25]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Chromosome-level genome assembly and annotation of the social amoeba Dictyostelium firmibasis.
Edelbroek B, Kjellin J, Jerlström-Hultqvist J, Koskiniemi S, Söderbom F
Sci Data 11 (1) 678 [2024-06-22; online 2024-06-22]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Completed genome and emergence scenario of the multidrug-resistant nosocomial pathogen Staphylococcus epidermidis ST215.
Kellgren T, Dwibedi C, Widerström M, ..., Rydén P, Johansson A
BMC Microbiol. 24 (1) 215 [2024-06-19; online 2024-06-19]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Intra-Individual Variations in How Insulin Sensitivity Responds to Long-Term Exercise: Predictions by Machine Learning Based on Large-Scale Serum Proteomics.
Viken JK, Olsen T, Drevon CA, ..., Norheim F, Lee-Ødegård S
Metabolites 14 (6) - [2024-06-15; online 2024-06-15]
Affinity Proteomics Uppsala [Service] NGI Proteomics [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Integrative transcriptomic and proteomic profiling of the effects of cell confluency on gene expression.
Lobo V, Shcherbinina E, Westholm JO, ..., Anastasakis DG, Sarshad AA
Sci Data 11 (1) 617 [2024-06-12; online 2024-06-12]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Glycoproteomics and MS Proteomics [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Detection of rare variants among nuclei populating the arbuscular mycorrhizal fungal model species Rhizophagus irregularis DAOM197198.
Manyara D, Sánchez-García M, Montoliu-Nerin M, Rosling A
G3 (Bethesda) 14 (6) - [2024-06-05; online 2024-04-24]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Ancient Sheep Genomes Reveal Four Millennia of North European Short-Tailed Sheep in the Baltic Sea Region.
Larsson MNA, Morell Miranda P, Pan L, ..., Storå J, Günther T
Genome Biol Evol 16 (6) - [2024-06-04; online 2024-05-25]
Ancient DNA [Service] Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Expedient Bayesian prediction of subfossil bone protein content using portable ATR-FTIR data
Hixon S, Roberts P, Rodríguez-Varela R, ..., Lagia A, Fernandes R
Quaternary International 694 (-) 1-12 [2024-06-00; online 2024-06-00]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
An endothelial regulatory module links blood pressure regulation with elite athletic performance.
Fegraeus K, Rosengren MK, Naboulsi R, ..., Meadows JRS, Lindgren G
PLoS Genet. 20 (6) e1011285 [2024-06-00; online 2024-06-17]
Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Regulatory and evolutionary impact of DNA methylation in two songbird species and their naturally occurring F1 hybrids.
Boman J, Qvarnström A, Mugal CF
BMC Biol. 22 (1) 124 [2024-05-29; online 2024-05-29]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Saccharomyces cerevisiae strains performing similarly during fermentation of lignocellulosic hydrolysates show pronounced differences in transcriptional stress responses.
Cámara E, Mormino M, Siewers V, Nygård Y
Appl. Environ. Microbiol. 90 (5) e0233023 [2024-05-21; online 2024-04-08]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Prediction models of persistent taxane-induced peripheral neuropathy among breast cancer survivors using whole-exome sequencing.
Engvall K, Uvdal H, Björn N, Åvall-Lundqvist E, Gréen H
NPJ Precis Oncol 8 (1) 102 [2024-05-16; online 2024-05-16]
Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] Clinical Genomics Gothenburg [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Complex genetic architecture of the chicken Growth1 QTL region.
Ou JH, Rönneburg T, Carlborg Ö, ..., Siegel PB, Rubin CJ
PLoS ONE 19 (5) e0295109 [2024-05-13; online 2024-05-13]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Growth and mortality rates of picophytoplankton in the Baltic Sea Proper
Alegria Zufia J, Laber C, Legrand C, Lindehoff E, Farnelid H
Mar. Ecol. Prog. Ser. 735 (-) 63-76 [2024-05-02; online 2024-05-02]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Sex-biased gene expression during neural differentiation of human embryonic stem cells
Pottmeier P, Nikolantonaki D, Lanner F, Peuckert C, Jazin E
Front Cell Dev Biol 12 (-) - [2024-05-01; online 2024-05-01]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Unlocking the secret life of blue mussels: Exploring connectivity in the Skagerrak through biophysical modeling and population genomics.
Gustafsson M, Strand Å, Laugen AT, ..., Wrange AL, De Wit P
Evol Appl 17 (5) e13704 [2024-05-00; online 2024-05-20]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Fluorescently labeled prey surrogates in combination with fluorescence‐activated cell sorting successfully discriminate actively feeding mixotrophs in a lake water sample
Florenza J, Divne A, Bertilsson S
Limnol Oceanogr 69 (5) 1030-1044 [2024-05-00; online 2024-03-13]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Growth-regulated co-occupancy of Mediator and Lsm3 at intronic ribosomal protein genes.
Abdel-Fattah WR, Carlsson M, Hu G, ..., Ronne H, Björklund S
Nucleic Acids Res. - (-) - [2024-04-13; online 2024-04-13]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Evolution of microRNAs in Amoebozoa and implications for the origin of multicellularity.
Edelbroek B, Kjellin J, Biryukova I, ..., Friedländer MR, Söderbom F
Nucleic Acids Res. 52 (6) 3121-3136 [2024-04-12; online 2024-02-20]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Exploring the short linear motif-mediated protein-protein interactions of CrkL through ProP-PD.
Pagano L, Simonetti L, Pennacchietti V, ..., Ivarsson Y, Gianni S
Biochem. Biophys. Res. Commun. 703 (-) 149658 [2024-04-09; online 2024-02-07]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Treatment Monitoring of a Patient with Synchronous Metastatic Angiosarcoma and Breast Cancer Using ctDNA.
Vannas C, Escobar M, Österlund T, ..., Fagman H, Ståhlberg A
Int J Mol Sci 25 (7) - [2024-04-04; online 2024-04-04]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population.
Lundtoft C, Knight A, Meadows JRS, ..., Lindblad-Toh K, Dahlqvist J
RMD Open 10 (2) - [2024-04-04; online 2024-04-04]
Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Microbial succession and denitrifying woodchip bioreactor performance at low water temperatures.
Hellman M, Juhanson J, Wallnäs F, Herbert RB, Hallin S
J Environ Manage 356 (-) 120607 [2024-04-00; online 2024-03-26]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Meta-analysis of ACE inhibitor-induced angioedema identifies novel risk locus.
Mathey CM, Maj C, Eriksson N, ..., Nöthen MM, Forstner AJ
J. Allergy Clin. Immunol. 153 (4) 1073-1082 [2024-04-00; online 2024-01-31]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Refining risk prediction in pediatric acute lymphoblastic leukemia through DNA methylation profiling.
Mosquera Orgueira A, Krali O, Pérez Míguez C, ..., Schmiegelow K, Nordlund J
Clin Epigenetics 16 (1) 49 [2024-03-28; online 2024-03-28]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification and surveillance of rare relapse-initiating stem cells during complete remission after transplantation.
Dimitriou M, Mortera-Blanco T, Tobiasson M, ..., Woll PS, Jacobsen SEW
Blood 143 (11) 953-966 [2024-03-14; online 2023-12-14]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification of microbial pathogens in Neolithic Scandinavian humans.
Bergfeldt N, Kırdök E, Oskolkov N, ..., Storå J, Götherström A
Sci Rep 14 (1) 5630 [2024-03-07; online 2024-03-07]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Loss of chromosome Y in regulatory T cells.
Mattisson J, Halvardson J, Davies H, ..., Dumanski JP, Forsberg LA
BMC Genomics 25 (1) 243 [2024-03-05; online 2024-03-05]
Bioinformatics Support for Computational Resources [Service] NGI Single cell [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic ancestry and social dynamics of the last hunter-gatherers of Atlantic France.
Simões LG, Peyroteo-Stjerna R, Marchand G, ..., Günther T, Jakobsson M
Proc. Natl. Acad. Sci. U.S.A. 121 (10) e2310545121 [2024-03-05; online 2024-02-26]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
High-Quality Genome Assemblies of 4 Members of the Podospora anserina Species Complex.
Ament-Velásquez SL, Vogan AA, Wallerman O, ..., Giraud T, Johannesson H
Genome Biol Evol 16 (3) - [2024-03-02; online 2024-02-22]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The regulation of methylation on the Z chromosome and the identification of multiple novel Male Hyper-Methylated regions in the chicken.
Höglund A, Henriksen R, Churcher AM, ..., Jensen P, Wright D
PLoS Genet. 20 (3) e1010719 [2024-03-00; online 2024-03-08]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Sorption of pharmaceuticals to foam and aerobic granular sludge with different morphologies
Burzio C, Mohammadi AS, Smith S, ..., Persson F, Wilén BM
Resources, Environment and Sustainability 15 (-) 100149 [2024-03-00; online 2024-03-00]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Rare coding variants in NOX4 link high ROS levels to psoriatic arthritis mutilans.
Wang S, Nikamo P, Laasonen L, ..., Ståhle M, Tapia-Paez I
EMBO Mol Med 16 (3) 596-615 [2024-03-00; online 2024-02-20]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Human PRH1, PRH2 susceptibility and resistance and Streptococcus mutans virulence phenotypes specify different microbial profiles in caries.
Sheng N, Mårell L, Sitaram RT, ..., Westerlund A, Strömberg N
EBioMedicine 101 (-) 105001 [2024-03-00; online 2024-02-15]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.
Johansson J, Lidéus S, Frykholm C, ..., Wilbe M, Bondeson ML
Eur. J. Hum. Genet. 32 (3) 333-341 [2024-03-00; online 2023-06-05]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comparison of high-throughput single-cell RNA-seq methods for ex vivo drug screening.
Gezelius H, Enblad AP, Lundmark A, ..., Andersson C, Nordlund J
NAR Genom Bioinform 6 (1) lqae001 [2024-03-00; online 2024-01-29]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Technology development] NGI Single cell [Technology development] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Whole genome case-control study of central nervous system toxicity due to antimicrobial drugs.
Ås J, Bertulyte I, Norgren N, ..., Wadelius M, Hallberg P
PLoS ONE 19 (2) e0299075 [2024-02-29; online 2024-02-29]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Population genomic analyses reveal that salinity and geographic isolation drive diversification in a free-living protist.
Rengefors K, Annenkova N, Wallenius J, ..., Kremp A, Ahrén D
Sci Rep 14 (1) 4986 [2024-02-29; online 2024-02-29]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptomic analysis identifies candidate genes for Aphanomyces root rot disease resistance in pea.
Kälin C, Piombo E, Bourras S, ..., Elfstrand M, Karlsson M
BMC Plant Biol. 24 (1) 144 [2024-02-28; online 2024-02-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Tumor Predisposing Post-Zygotic Chromosomal Alterations in Bladder Cancer-Insights from Histologically Normal Urothelium.
Stańkowska W, Sarkisyan D, Bruhn-Olszewska B, ..., Filipowicz N, Dumanski JP
Cancers (Basel) 16 (5) - [2024-02-27; online 2024-02-27]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Ancient reindeer mitogenomes reveal island-hopping colonisation of the Arctic archipelagos.
Hold K, Lord E, Brealey JC, ..., Martin MD, Dussex N
Sci Rep 14 (1) 4143 [2024-02-20; online 2024-02-20]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Long noncoding RNA plasmacytoma variant translocation 1 is overexpressed in cutaneous squamous cell carcinoma and exon 2 is critical for its oncogenicity.
Li C, Sun C, Mahapatra KD, ..., Sonkoly E, Pivarcsi A
Br J Dermatol 190 (3) 415-426 [2024-02-16; online 2023-11-06]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Sustained looking at faces at 5 months of age is associated with socio-communicative skills in the second year of life.
Viktorsson C, Portugal AM, Taylor MJ, Ronald A, Falck-Ytter T
Infancy 29 (3) 459-478 [2024-02-15; online 2024-02-15]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gene co-expression network analysis reveal core responsive genes in Parascaris univalens tissues following ivermectin exposure.
Dube F, Delhomme N, Martin F, ..., Svärd S, Tydén E
PLoS ONE 19 (2) e0298039 [2024-02-15; online 2024-02-15]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic and environmental contributions to gaze lateralization across social and non-social stimuli in human infants.
Viktorsson C, Portugal AM, Falck-Ytter T
Sci Rep 14 (1) 3668 [2024-02-14; online 2024-02-14]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Phylogeography and phenotypic wing shape variation in a damselfly across populations in Europe.
Yildirim Y, Kristensson D, Outomuro D, ..., Sniegula S, Johansson F
BMC Ecol Evol 24 (1) 19 [2024-02-03; online 2024-02-03]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Multimodal Single-Cell Sequencing of B Cells in Primary Sjögren's Syndrome.
Arvidsson G, Czarnewski P, Johansson A, ..., Nordmark G, Syvänen A
Arthritis & rheumatology (Hoboken, N.J.) 76 (2) 255-267 [2024-02-00; online 2023-12-18]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Single cell [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic diversity patterns in farmed rainbow trout (Oncorhynchus mykiss) populations using genome-wide SNP and haplotype data.
Longo A, Kurta K, Vanhala T, ..., de Koning DJ, Palaiokostas C
Anim Genet 55 (1) 87-98 [2024-02-00; online 2023-11-23]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Fine-scale genetic structure in the orchid Gymnadenia conopsea is not associated with local density of flowering plants.
Sletvold N, Joffard N, Söderquist L
Am. J. Bot. 111 (2) e16273 [2024-02-00; online 2024-01-30]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile.
Lindelöf L, Rantapää-Dahlqvist S, Lundtoft C, ..., Svenungsson E, Eriksson O
J. Autoimmun. 143 (-) 103166 [2024-02-00; online 2024-01-13]
Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Batrachochytrium dendrobatidis strain affects transcriptomic response in liver but not skin in latitudinal populations of the common toad (Bufo bufo).
Chondrelli N, Kuehn E, Meurling S, ..., Laurila A, Höglund J
Sci Rep 14 (1) 2495 [2024-01-30; online 2024-01-30]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A two-step activation mechanism enables mast cells to differentiate their response between extracellular and invasive enterobacterial infection.
von Beek C, Fahlgren A, Geiser P, ..., Pejler G, Sellin ME
Nat Commun 15 (1) 904 [2024-01-30; online 2024-01-30]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Single-cell RNA-seq mapping of chicken peripheral blood leukocytes.
Maxwell M, Söderlund R, Härtle S, Wattrang E
BMC Genomics 25 (1) 124 [2024-01-29; online 2024-01-29]
Bioinformatics Support for Computational Resources [Service] NGI Single cell [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic diversity and recent ancestry based on whole-genome sequencing of endangered Swedish cattle breeds.
Harish A, Lopes Pinto FA, Eriksson S, Johansson AM
BMC Genomics 25 (1) 89 [2024-01-22; online 2024-01-22]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Metagenomic analysis of Mesolithic chewed pitch reveals poor oral health among stone age individuals.
Kırdök E, Kashuba N, Damlien H, ..., Aravena A, Götherström A
Sci Rep 13 (1) 22125 [2024-01-18; online 2024-01-18]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Ciliate Grazing on the Bloom-Forming Microalga Gonyostomum semen.
Bergman I, Lindström ES, Sassenhagen I
Microb. Ecol. 87 (1) 33 [2024-01-18; online 2024-01-18]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Differential expression and alternative splicing analyses of multiple tissues reveal albinism-associated genes in the Wels catfish (Silurus glanis).
Ozerov MY, Noreikiene K, Kahar S, ..., Gross R, Vasemägi A
Comp Biochem Physiol B Biochem Mol Biol 271 (-) 110941 [2024-01-11; online 2024-01-11]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Single-cell genomics of a bloom-forming phytoplankton species reveals population genetic structure across continents.
Gollnisch R, Ahrén D, Rengefors K
ISME J 18 (1) - [2024-01-08; online 2024-03-15]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Separating phases of allopolyploid evolution with resynthesized and natural Capsella bursa-pastoris.
Duan T, Sicard A, Glémin S, Lascoux M
Elife 12 (-) - [2024-01-08; online 2024-01-08]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A pan-genomic approach reveals novel Sulfurimonas clade in the ferruginous meromictic Lake Pavin.
Biderre-Petit C, Courtine D, Hennequin C, ..., Divne A, Hochart C
Mol Ecol Resour - (-) e13923 [2024-01-08; online 2024-01-08]
Microbial Single Cell Genomics [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Sex-limited experimental evolution drives transcriptomic divergence in a hermaphrodite.
Cīrulis A, Nordén AK, Churcher AM, ..., Zadesenets KS, Abbott JK
Genome Biol Evol 16 (1) - [2024-01-05; online 2023-12-29]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole-genome selective sweep analyses identifies the region and candidate gene associated with white earlobe color in Mediterranean chickens.
Guo Y, Rubin CJ, Rönneburg T, ..., Hu X, Carlborg Ö
Poult. Sci. 103 (1) 103232 [2024-01-00; online 2023-10-24]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The genetic legacy of the expansion of Bantu-speaking peoples in Africa.
Fortes-Lima CA, Burgarella C, Hammarén R, ..., Bostoen K, Schlebusch CM
Nature 625 (7995) 540-547 [2024-01-00; online 2023-11-29]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
New chemical and microbial perspectives on vitamin B1 and vitamer dynamics of a coastal system.
Bittner MJ, Bannon CC, Rowland E, ..., Paerl RW, Riemann L
ISME COMMUN. 4 (1) ycad016 [2024-01-00; online 2024-01-10]
Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Population genomic data reveal low genetic diversity, divergence and local adaptation among threatened Reeves's Pheasant (Syrmaticus reevesii)
Lu Q, Wang P, Chang J, ..., Höglund J, Zhang Z
Avian Research 15 (-) 100156 [2024-00-00; online 2024-00-00]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2023

PubMed DOI Crossref
Effect of anode material and dispersal limitation on the performance and biofilm community in microbial electrolysis cells.
Abadikhah M, Liu M, Persson F, ..., Sun J, Modin O
Biofilm 6 (-) 100161 [2023-12-15; online 2023-10-10]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Haplotype-resolved genome of heterozygous African cassava cultivar TMEB117 (Manihot esculenta).
Landi M, Shah T, Falquet L, ..., Bongcam-Rudloff E, Gisel A
Sci Data 10 (1) 887 [2023-12-09; online 2023-12-09]
Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Long read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia.
Krali O, Marincevic-Zuniga Y, Arvidsson G, ..., Syvänen AC, Nordlund J
NPJ Precis Oncol 7 (1) 131 [2023-12-08; online 2023-12-08]
Clinical Genomics Stockholm [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Shared and distinct pathways and networks genetically linked to coronary artery disease between human and mouse.
Kurt Z, Cheng J, Barrere-Cain R, ..., Blencowe M, Yang X
Elife 12 (-) - [2023-12-07; online 2023-12-07]
NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Meta-Analyses of Genome-Wide Association Studies for Postpartum Depression.
Guintivano J, Byrne EM, Kiewa J, ..., Meltzer-Brody S, Sullivan P
Am J Psychiatry 180 (12) 884-895 [2023-12-01; online 2023-10-18]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Complex Evolutionary History With Extensive Ancestral Gene Flow in an African Primate Radiation.
Jensen A, Swift F, de Vries D, ..., Roos C, Guschanski K
Mol. Biol. Evol. 40 (12) - [2023-12-01; online 2023-11-21]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
An epigenome-wide analysis of sex hormone levels and DNA methylation in male blood samples.
Harbs J, Rinaldi S, Keski-Rahkonen P, ..., Van Guelpen B, Harlid S
Epigenetics 18 (1) 2196759 [2023-12-00; online 2023-03-31]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Using trials of caloric restriction and bariatric surgery to explore the effects of body mass index on the circulating proteome.
Goudswaard LJ, Smith ML, Hughes DA, ..., Timpson NJ, Corbin LJ
Sci Rep 13 (1) 21077 [2023-11-29; online 2023-11-29]
Affinity Proteomics Uppsala [Service] NGI Proteomics [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Infants' looking preferences for social versus non-social objects reflect genetic variation.
Portugal AM, Viktorsson C, Taylor MJ, ..., Ronald A, Falck-Ytter T
Nat Hum Behav - (-) - [2023-11-27; online 2023-11-27]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DNA elements tether canonical Polycomb Repressive Complex 1 to human genes.
Barrasa JI, Kahn TG, Lundkvist MJ, Schwartz YB
Nucleic Acids Res. 51 (21) 11613-11633 [2023-11-27; online 2023-10-19]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
RecView: an interactive R application for locating recombination positions using pedigree data.
Zhang H, Hansson B
BMC Genomics 24 (1) 712 [2023-11-25; online 2023-11-25]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Dysregulations in hemostasis, metabolism, immune response, and angiogenesis in post-acute COVID-19 syndrome with and without postural orthostatic tachycardia syndrome: a multi-omic profiling study.
Mahdi A, Zhao A, Fredengren E, ..., Pernow J, Ståhlberg M
Sci Rep 13 (1) 20230 [2023-11-19; online 2023-11-19]
Affinity Proteomics Uppsala [Service] NGI Proteomics [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay.
Thuresson A, Brazina J, Akram T, ..., Soussi Zander C, Caldecott KW
Mol Genet Genomic Med - (-) e2295 [2023-11-02; online 2023-11-02]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Evidence of Site-Specific and Male-Biased Germline Mutation Rate in a Wild Songbird.
Zhang H, Lundberg M, Tarka M, Hasselquist D, Hansson B
Genome Biol Evol 15 (11) - [2023-11-01; online 2023-10-04]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Smoking affects epigenetic ageing of lung bronchoalveolar lavage cells in Multiple Sclerosis.
Klose D, Needhamsen M, Ringh MV, ..., Jagodic M, Kular L
Mult Scler Relat Disord 79 (-) 104991 [2023-11-00; online 2023-09-09]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Nutrient availability and grazing influence the strength of priority effects during freshwater bacterial community coalescence.
Lumpi T, Guo X, Lindström ES
Environ. Microbiol. 25 (11) 2289-2302 [2023-11-00; online 2023-06-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Proteomics reveal biomarkers for diagnosis, disease activity and long-term disability outcomes in multiple sclerosis.
Åkesson J, Hojjati S, Hellberg S, ..., Ernerudh J, Gustafsson M
Nat Commun 14 (1) 6903 [2023-10-30; online 2023-10-30]
Affinity Proteomics Uppsala [Service] NGI Proteomics [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Complete Mitochondrial DNA Genome Variation in the Swedish Population.
Sturk-Andreaggi K, Bodner M, Ring JD, ..., Marshall C, Allen M
Genes 14 (11) - [2023-10-25; online 2023-10-25]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Polymorphic parasitic larvae cooperate to build swimming colonies luring hosts.
Krupenko D, Miroliubov A, Kryukov E, ..., Kastriti ME, Adameyko I
Curr. Biol. 33 (20) 4524-4531.e4 [2023-10-23; online 2023-09-22]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Screening for atypical porcine pestivirus in Swedish boar semen used for artificial insemination and a characterisation of the seminal RNA microbiome including the virome.
Stenberg H, Malmberg M, Hayer J
BMC Vet Res 19 (1) 219 [2023-10-20; online 2023-10-20]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Single-Cell RNA Analysis Reveals Cell-Intrinsic Functions of CAR T Cells Correlating with Response in a Phase II Study of Lymphoma Patients.
Sarén T, Ramachandran M, Gammelgård G, ..., Enblad G, Essand M
Clin. Cancer Res. 29 (20) 4139-4152 [2023-10-13; online 2023-08-04]
Affinity Proteomics Uppsala [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic, transcriptomic and epigenomic sequencing data of the B-cell leukemia cell line REH.
Lysenkova Wiklander M, Övernäs E, Lagensjö J, ..., Liljedahl U, Nordlund J
BMC Res Notes 16 (1) 265 [2023-10-10; online 2023-10-10]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Low mutation load in a supergene underpinning alternative male mating strategies in ruff (Calidris pugnax).
Hill J, Enbody ED, Bi H, ..., Widemo F, Andersson L
Mol. Biol. Evol. 40 (12) msad224 [2023-10-06; online 2023-10-06]
Bioinformatics Support for Computational Resources [Service] NGI Long read [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Introgression underlies phylogenetic uncertainty but not parallel plumage evolution in a recent songbird radiation.
Rancilhac L, Enbody ED, Harris R, ..., Andersson L, Alström P
Syst. Biol. - (-) - [2023-10-06; online 2023-10-06]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Metabolomic and transcriptomic analyses identify external conditions and key genes underlying high levels of toxic glycoalkaloids in tubers of stress-sensitive potato cultivars.
Merino I, Guasca AO, Krmela A, ..., Schulzova V, Sitbon F
Front Plant Sci 14 (-) 1210850 [2023-10-04; online 2023-10-04]
Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Similarity in milk microbiota in replicates.
Dahlberg J, Pelve E, Dicksved J
Microbiologyopen 12 (5) e1383 [2023-10-00; online 2023-10-25]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Increased MYB alternative promoter usage is associated with relapse in acute lymphoblastic leukemia.
Fehr A, Arvidsson G, Nordlund J, ..., Stenman G, Andersson MK
Genes Chromosomes Cancer 62 (10) 597-606 [2023-10-00; online 2023-05-23]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
B cell polygenic risk scores associate with anti-dsDNA antibodies and nephritis in systemic lupus erythematosus.
Hedenstedt A, Reid S, Sayadi A, ..., Sandling JK, Leonard D
Lupus Sci Med 10 (2) - [2023-10-00; online 2023-10-17]
NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole genome sequence of the deep-sea sponge Geodia barretti (Metazoa, Porifera, Demospongiae).
Steffen K, Proux-Wéra E, Soler L, ..., Sundh J, Cárdenas P
G3 (Bethesda) 13 (10) - [2023-09-30; online 2023-08-25]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Long read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Community-wide genome sequencing reveals 30 years of Darwin's finch evolution.
Enbody ED, Sendell-Price AT, Sprehn CG, ..., Grant PR, Andersson L
Science 381 (6665) eadf6218 [2023-09-29; online 2023-09-29]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Single-cell transcriptomics delineates the immune cell landscape in equine lower airways and reveals upregulation of FKBP5 in horses with asthma.
Riihimäki M, Fegraeus K, Nordlund J, ..., Hellman L, Raine A
Sci Rep 13 (1) 16261 [2023-09-27; online 2023-09-27]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Collaborative] NGI Single cell [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets.
Mihalič F, Benz C, Kassa E, ..., Jemth P, Ivarsson Y
Nat Commun 14 (1) 5636 [2023-09-13; online 2023-09-13]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Seasonal and age-related changes in sperm quality of farmed arctic charr (Salvelinus alpinus).
Kurta K, Jeuthe H, Naboulsi R, de Koning DJ, Palaiokostas C
BMC Genomics 24 (1) 519 [2023-09-04; online 2023-09-04]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis.
Ekman D, Sennblad B, Knight A, ..., Lindblad-Toh K, Dahlqvist J
Rheumatology (Oxford) 62 (9) 3213-3218 [2023-09-01; online 2023-04-03]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mosaic Loss of Chromosome Y Is Associated With Functional Outcome After Ischemic Stroke.
Dorvall M, Pedersen A, Dumanski JP, ..., Stanne TM, Jern C
Stroke 54 (9) 2434-2437 [2023-09-00; online 2023-07-19]
Clinical Genomics Gothenburg [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Milder Autumns May Increase Risk for Infection of Crops with Turnip Yellows Virus.
Puthanveed V, Singh K, Poimenopoulou E, ..., Siddique AB, Kvarnheden A
Phytopathology 113 (9) 1788-1798 [2023-09-00; online 2023-11-01]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Chromatin accessibility, not 5mC methylation covaries with partial dosage compensation in crows.
Catalán A, Merondun J, Knief U, Wolf JBW
PLoS Genet. 19 (9) e1010901 [2023-09-00; online 2023-09-25]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Inhibition of high level E2F in a RB1 proficient MYCN overexpressing chicken retinoblastoma model normalizes neoplastic behaviour.
Zhang H, Konjusha D, Rafati N, Tararuk T, Hallböök F
Cell Oncol (Dordr) - (-) - [2023-08-22; online 2023-08-22]
Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Contrasting response of microeukaryotic and bacterial communities to the interplay of seasonality and local stressors in shallow soda lakes.
Márton Z, Csitári B, Felföldi T, ..., Szabó A, Székely AJ
FEMS Microbiol. Ecol. 99 (9) - [2023-08-22; online 2023-08-17]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Bacterial bioindicators enable biological status classification along the continental Danube river.
Fontaine L, Pin L, Savio D, ..., Farnleitner AH, Eiler A
Commun Biol 6 (1) 862 [2023-08-18; online 2023-08-18]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Environmental effects rather than relatedness determine gut microbiome similarity in a social mammal.
Bensch HM, Lundin D, Tolf C, Waldenström J, Zöttl M
J. Evol. Biol. - (-) - [2023-08-16; online 2023-08-16]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia.
Rezayee F, Eisfeldt J, Skaftason A, ..., Rosenquist R, Barbany G
Front Oncol 13 (-) 1217712 [2023-08-14; online 2023-08-14]
Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic continuity, isolation, and gene flow in Stone Age Central and Eastern Europe.
Mattila TM, Svensson EM, Juras A, ..., Malmström H, Jakobsson M
Commun Biol 6 (1) 793 [2023-08-09; online 2023-08-09]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DNA Methylation Signatures of Multiple Sclerosis Occur Independently of Known Genetic Risk and Are Primarily Attributed to B Cells and Monocytes.
Xavier A, Maltby VE, Ewing E, ..., Lea RA, Lechner-Scott J
Int J Mol Sci 24 (16) - [2023-08-08; online 2023-08-08]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.
Lundtoft C, Eriksson D, Bianchi M, ..., Rönnblom L, Kämpe O
Eur. J. Endocrinol. 189 (2) 235-241 [2023-08-02; online 2023-08-09]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic insights into resting heart rate and its role in cardiovascular disease.
van de Vegte YJ, Eppinga RN, van der Ende MY, ..., Verweij N, van der Harst P
Nat Commun 14 (1) 4646 [2023-08-02; online 2023-08-02]
Clinical Genomics Gothenburg [Collaborative] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Somatic Exonic Deletions in RUNX1 Constitutes a Novel Recurrent Genomic Abnormality in Acute Myeloid Leukemia.
Eriksson A, Engvall M, Mathot L, ..., Ladenvall C, Baliakas P
Clin. Cancer Res. 29 (15) 2826-2834 [2023-08-01; online 2023-04-07]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics Uppsala [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Patrilocality and hunter-gatherer-related ancestry of populations in East-Central Europe during the Middle Bronze Age.
Chyleński M, Makarowicz P, Juras A, ..., Jakobsson M, Malmström H
Nat Commun 14 (1) 4395 [2023-08-01; online 2023-08-01]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Examining neurodevelopmental problems in 15q11.2 (BP1-BP2) copy number variation carriers at ages 9/12 and 18 in a Swedish twin sample.
Jonsson L, Martin J, Lichtenstein P, ..., Westberg L, Tammimies K
Mol Genet Genomic Med 11 (8) e2191 [2023-08-00; online 2023-05-08]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Clones on the run: The genomics of a recently expanded partially clonal species.
Pereyra RT, Rafajlović M, De Wit P, ..., Töpel M, Johannesson K
Mol. Ecol. 32 (15) 4209-4223 [2023-08-00; online 2023-05-18]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Characterisation of a low methane emission rice cultivar suitable for cultivation in high latitude light and temperature conditions.
Hu J, Bettembourg M, Moreno S, ..., Sundström J, Jin Y
Environ Sci Pollut Res 30 (40) 92950-92962 [2023-08-00; online 2023-07-27]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Cutaneous squamous cell carcinoma-derived extracellular vesicles exert an oncogenic role by activating cancer-associated fibroblasts.
Li C, Sun C, Lohcharoenkal W, ..., Sonkoly E, Pivarcsi A
Cell Death Discov 9 (1) 260 [2023-07-26; online 2023-07-26]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Next generation pan-cancer blood proteome profiling using proximity extension assay.
Álvez MB, Edfors F, von Feilitzen K, ..., Fagerberg L, Uhlén M
Nat Commun 14 (1) 4308 [2023-07-18; online 2023-07-18]
Affinity Proteomics Uppsala [Collaborative] Bioinformatics Support for Computational Resources [Service] NGI Proteomics [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Vascular endothelial growth factor-D plasma levels and VEGFD genetic variants are independently associated with outcomes in patients with cardiovascular disease.
Davidsson P, Eketjäll S, Eriksson N, ..., White H, Wallentin L
Cardiovasc. Res. 119 (7) 1596-1605 [2023-07-04; online 2023-03-05]
Affinity Proteomics Uppsala [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Forest Fire Influence on Tomicus piniperda-Associated Fungal Communities and Phloem Nutrient Availability of Colonized Pinus sylvestris.
Kluting K, Strid Y, Six D, Rosling A
Microb. Ecol. 86 (1) 224-239 [2023-07-00; online 2022-07-13]
Bioinformatics Support for Computational Resources [Service] NGI Long read [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Forensic prediction of sex, age, height, body mass index, hip-to-waist ratio, smoking status and lipid lowering drugs using epigenetic markers and plasma proteins.
Llobet MO, Johansson Å, Gyllensten U, Allen M, Enroth S
Forensic Sci Int Genet 65 (-) 102871 [2023-07-00; online 2023-04-07]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Environmental stress during larval development induces DNA methylation shifts in the migratory painted lady butterfly (Vanessa cardui).
Boman J, Zhu Y, Höök L, ..., Talavera G, Backström N
Mol. Ecol. 32 (13) 3513-3523 [2023-07-00; online 2023-04-23]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic markers associated with bone composition in Rhode Island Red laying hens.
Sallam M, Wilson PW, Andersson B, ..., De Koning DJ, Johnsson M
Genet. Sel. Evol. 55 (1) 44 [2023-06-29; online 2023-06-29]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs.
Rohdin C, Wang C, Brander G, ..., Ljungvall I, Lindblad-Toh K
J. Vet. Intern. Med. 37 (4) 1507-1513 [2023-06-09; online 2023-06-09]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Ablation of ZC3H11A causes early embryonic lethality and dysregulation of metabolic processes.
Younis S, Jouneau A, Larsson M, ..., Brochard V, Andersson L
Proc. Natl. Acad. Sci. U.S.A. 120 (23) e2216799120 [2023-06-06; online 2023-05-30]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Phenotypic and transcriptomic acclimation of the green microalga Raphidocelis subcapitata to high environmental levels of the herbicide diflufenican.
Gómez-Martínez D, Bengtson J, Nilsson AK, ..., Kristiansson E, Corcoll N
Sci. Total Environ. 875 (-) 162604 [2023-06-01; online 2023-03-05]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Chromosome-level genome assembly of Lilford's wall lizard, Podarcis lilfordi (Günther, 1874) from the Balearic Islands (Spain).
Gomez-Garrido J, Cruz F, Alioto TS, ..., Otalora Acevedo KE, Baldo L
DNA Res. 30 (3) - [2023-06-01; online 2023-05-04]
NGI Other [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The genomic basis and environmental correlates of local adaptation in the Atlantic horse mackerel (Trachurus trachurus).
Fuentes-Pardo AP, Farrell ED, Pettersson ME, Sprehn CG, Andersson L
Evol Appl 16 (6) 1201-1219 [2023-06-00; online 2023-06-06]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Northwest African Neolithic initiated by migrants from Iberia and Levant.
Simões LG, Günther T, Martínez-Sánchez RM, ..., Valdiosera C, Jakobsson M
Nature 618 (7965) 550-556 [2023-06-00; online 2023-06-07]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake.
Williamson A, Norris DM, Yin X, ..., Fazakerley DJ, Langenberg C
Nat. Genet. 55 (6) 973-983 [2023-06-00; online 2023-06-08]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The Swedish childhood tumor biobank: systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden.
Díaz de Ståhl T, Shamikh A, Mayrhofer M, ..., Sandgren J, Nistér M
J Transl Med 21 (1) 342 [2023-05-23; online 2023-05-23]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI SNP genotyping [Service] NGI Short read [Collaborative] NGI Stockholm (Genomics Production) [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
SAG-RAD: A Method for Single-Cell Population Genomics of Unicellular Eukaryotes.
Gollnisch R, Wallenius J, Gribble KE, Ahrén D, Rengefors K
Mol. Biol. Evol. 40 (5) - [2023-05-02; online 2023-04-20]
Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comparative assessment of the bacterial communities associated with Anopheles darlingi immature stages and their breeding sites in the Brazilian Amazon.
Mosquera KD, Nilsson LKJ, de Oliveira MR, ..., de Souza AQL, Terenius O
Parasit Vectors 16 (1) 156 [2023-05-01; online 2023-05-01]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Trophozoite fitness dictates the intestinal epithelial cell response to Giardia intestinalis infection.
Grüttner J, van Rijn JM, Geiser P, ..., Sellin ME, Svärd SG
PLoS Pathog. 19 (5) e1011372 [2023-05-00; online 2023-05-04]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
​Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs.
Moon KL, Huson HJ, Morrill K, ..., Karlsson EK, Shapiro B
Science 380 (6643) eabn5887 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Three-dimensional genome rewiring in loci with human accelerated regions.
Keough KC, Whalen S, Inoue F, ..., Pollen A, Pollard KS
Science 380 (6643) eabm1696 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The functional and evolutionary impacts of human-specific deletions in conserved elements.
Xue JR, Mackay-Smith A, Mouri K, ..., Sabeti PC, Reilly SK
Science 380 (6643) eabn2253 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The contribution of historical processes to contemporary extinction risk in placental mammals.
Wilder AP, Supple MA, Subramanian A, ..., Ryder OA, Shapiro B
Science 380 (6643) eabn5856 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Relating enhancer genetic variation across mammals to complex phenotypes using machine learning.
Kaplow IM, Lawler AJ, Schäffer DE, ..., Meyer WK, Pfenning AR
Science 380 (6643) eabm7993 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mammalian evolution of human cis-regulatory elements and transcription factor binding sites.
Andrews G, Fan K, Pratt HE, ..., Moore JE, Weng Z
Science 380 (6643) eabn7930 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Leveraging base-pair mammalian constraint to understand genetic variation and human disease.
Sullivan PF, Meadows JRS, Gazal S, ..., Karlsson EK, Lindblad-Toh K
Science 380 (6643) eabn2937 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Integrating gene annotation with orthology inference at scale.
Kirilenko BM, Munegowda C, Osipova E, ..., Zoonomia Consortium‡ , Hiller M
Science 380 (6643) eabn3107 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Insights into mammalian TE diversity through the curation of 248 genome assemblies.
Osmanski AB, Paulat NS, Korstian J, ..., Lindblad-Toh K, Ray DA
Science 380 (6643) eabn1430 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Evolutionary constraint and innovation across hundreds of placental mammals.
Christmas MJ, Kaplow IM, Genereux DP, ..., Lindblad-Toh K, Karlsson EK
Science 380 (6643) eabn3943 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A genomic timescale for placental mammal evolution.
Foley NM, Mason VC, Harris AJ, ..., Springer MS, Murphy WJ
Science 380 (6643) eabl8189 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Prominent epigenetic and transcriptomic changes in CD4+ and CD8+ T cells during and after pregnancy in women with multiple sclerosis and controls.
Zenere A, Hellberg S, Papapavlou Lingehed G, ..., Gustafsson M, Ernerudh J
J Neuroinflammation 20 (1) 98 [2023-04-27; online 2023-04-27]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Low-grade glioma risk SNP rs11706832 is associated with type I interferon response pathway genes in cell lines.
Rosenbaum A, Dahlin AM, Andersson U, ..., Wibom C, Melin B
Sci Rep 13 (1) 6777 [2023-04-25; online 2023-04-25]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] Swedish Metabolomics Centre (SMC) [Service]
PubMed DOI Crossref
Longitudinal associations between use of antihypertensive, antidiabetic, and lipid-lowering medications and biological aging.
Tang B, Li X, Wang Y, ..., Pedersen NL, Hägg S
Geroscience - (-) - [2023-04-10; online 2023-04-10]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Cross-Sectional Gene-Smoking Interaction Analysis in Relation to Subclinical Atherosclerosis-Results From the IMPROVE Study.
Maitusong B, Laguzzi F, Strawbridge RJ, ..., Leander K, IMPROVE Study group†
Circ Genom Precis Med - (-) e003710 [2023-04-06; online 2023-04-06]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Red clover root-associated microbiota is shaped by geographic location and choice of farming system.
Jambagi S, Hodén KP, Öhlund L, Dixelius C
J Appl Microbiol 134 (4) - [2023-04-03; online 2023-04-04]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole-genome re-sequencing provides key genomic insights in farmed Arctic charr (Salvelinus alpinus) populations of anadromous and landlocked origin from Scandinavia.
Pappas F, Kurta K, Vanhala T, ..., Beirão J, Palaiokostas C
Evol Appl 16 (4) 797-813 [2023-04-00; online 2023-02-27]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetically and environmentally predicted obesity in relation to cardiovascular disease: a nationwide cohort study.
Ojalehto E, Zhan Y, Jylhävä J, ..., Dahl Aslan AK, Karlsson IK
EClinicalMedicine 58 (-) 101943 [2023-04-00; online 2023-04-06]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
From high masked to high realized genetic load in inbred Scandinavian wolves.
Smeds L, Ellegren H
Mol. Ecol. 32 (7) 1567-1580 [2023-04-00; online 2022-12-13]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenetic changes in the CYP2D6 gene are related to severity of suicide attempt: A cross-sectional study of suicide attempters.
Boström AED, Jamshidi E, Manu DM, ..., Åsberg M, Jokinen J
J Psychiatr Res 160 (-) 217-224 [2023-04-00; online 2023-02-24]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Simultaneous Ultra-Sensitive Detection of Structural and Single Nucleotide Variants Using Multiplex Droplet Digital PCR in Liquid Biopsies from Children with Medulloblastoma.
Arthur C, Jylhä C, de Ståhl TD, ..., Sandvik U, Tham E
Cancers (Basel) 15 (7) - [2023-03-25; online 2023-03-25]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Enhanced glycerol assimilation and lipid production in Rhodotorula toruloides CBS14 upon addition of hemicellulose primarily correlates with early transcription of energy-metabolism-related genes.
Martín-Hernández GC, Chmielarz M, Müller B, ..., Hölzer M, Passoth V
Biotechnol Biofuels Bioprod 16 (1) 42 [2023-03-10; online 2023-03-10]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.
Rifkin RF, Vikram S, Alcorta J, ..., Schlebusch CM, Lombard M
Commun Biol 6 (1) 240 [2023-03-03; online 2023-03-03]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.
Mathieson I, Day FR, Barban N, ..., Mills MC, Perry JRB
Nat Hum Behav - (-) - [2023-03-02; online 2023-03-02]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Occupational inhalable agents constitute major risk factors for rheumatoid arthritis, particularly in the context of genetic predisposition and smoking.
Tang B, Liu Q, Ilar A, ..., Alfredsson L, Jiang X
Ann. Rheum. Dis. 82 (3) 316-323 [2023-03-00; online 2022-12-06]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.
Shrine N, Izquierdo AG, Chen J, ..., Hall IP, Tobin MD
Nat. Genet. 55 (3) 410-422 [2023-03-00; online 2023-03-13]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Reconstructing clonal tree for phylo-phenotypic characterization of cancer using single-cell transcriptomics.
Jun S, Toosi H, Mold J, ..., Roth A, Lagergren J
Nat Commun 14 (1) 982 [2023-02-22; online 2023-02-22]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Accelerated epigenetic aging in women with emotionally unstable personality disorder and a history of suicide attempts.
Boström ADE, Andersson P, Jamshidi E, ..., Åsberg M, Jokinen J
Transl Psychiatry 13 (1) 66 [2023-02-22; online 2023-02-22]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Targeting the gut-lung axis by synbiotic feeding to infants in a randomized controlled trial.
Sjödin KS, Sjödin A, Ruszczyński M, ..., Szajewska H, West CE
BMC Biol. 21 (1) 38 [2023-02-20; online 2023-02-20]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] Swedish Metabolomics Centre (SMC) [Service]
PubMed DOI Crossref
Endosperm cellularization failure induces a dehydration-stress response leading to embryo arrest.
Xu W, Sato H, Bente H, Santos-González J, Köhler C
Plant Cell 35 (2) 874-888 [2023-02-20; online 2022-11-26]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] Swedish Metabolomics Centre (SMC) [Service]
PubMed DOI Crossref
Associations of DNA Methylation With Behavioral Problems, Gray Matter Volumes, and Negative Life Events Across Adolescence: Evidence From the Longitudinal IMAGEN Study.
Sun Y, Jia T, Barker ED, ..., Schumann G, Desrivières S
Biol. Psychiatry 93 (4) 342-351 [2023-02-15; online 2022-06-22]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Bacteroidetes to Firmicutes: captivity changes the gut microbiota composition and diversity in a social subterranean rodent.
Bensch HM, Tolf C, Waldenström J, Lundin D, Zöttl M
Anim Microbiome 5 (1) 9 [2023-02-10; online 2023-02-10]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Inversions maintain differences between migratory phenotypes of a songbird.
Lundberg M, Mackintosh A, Petri A, Bensch S
Nat Commun 14 (1) 452 [2023-01-27; online 2023-01-27]
Bioinformatics Support for Computational Resources [Service] NGI Other [Service] NGI Short read [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Highly differentiated loci resolve phylogenetic relationships in the Bean Goose complex.
Ottenburghs J, Honka J, Heikkinen ME, ..., Müskens GJDM, Ellegren H
BMC Ecol Evol 23 (1) 2 [2023-01-19; online 2023-01-19]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Microbial communities mediating net methylmercury formation along a trophic gradient in a peatland chronosequence.
Wang B, Hu H, Bishop K, ..., Bertilsson S, Bravo AG
J Hazard Mater 442 (-) 130057 [2023-01-15; online 2022-09-23]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia.
Arendt ML, Sakthikumar S, Melin M, ..., Rönnberg H, Lindblad-Toh K
Sci Rep 13 (1) 632 [2023-01-12; online 2023-01-12]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Longitudinal single-cell analysis of SARS-CoV-2-reactive B cells uncovers persistence of early-formed, antigen-specific clones.
Scharf L, Axelsson H, Emmanouilidi A, ..., Bemark M, Angeletti D
JCI Insight 8 (1) - [2023-01-10; online 2023-01-10]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Methylation in MAD1L1 is associated with the severity of suicide attempt and phenotypes of depression.
Sokolov AV, Manu DM, Nordberg DOT, ..., Jokinen J, Schiöth HB
Clin Epigenetics 15 (1) 1 [2023-01-04; online 2023-01-04]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Experimental Life History Evolution Results in Sex-specific Evolution of Gene Expression in Seed Beetles.
Immonen E, Sayadi A, Stojković B, ..., Wiberg RAW, Arnqvist G
Genome Biol Evol 15 (1) - [2023-01-04; online 2022-12-22]
Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The path to immortalization of cells starts by managing stress through gene duplications.
Lewerentz J, Johansson AM, Stenberg P
Exp. Cell Res. 422 (1) 113431 [2023-01-01; online 2022-11-21]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia.
Wen J, Trost B, Engchuan W, ..., Yuen RKC, Szatkiewicz JP
Mol. Psychiatry 28 (1) 475-482 [2023-01-00; online 2022-11-16]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Bayesian mixed model analysis uncovered 21 risk loci for chronic kidney disease in boxer dogs.
Lingaas F, Tengvall K, Jansen JH, ..., Lindblad-Toh K, Wang C
PLoS Genet. 19 (1) e1010599 [2023-01-00; online 2023-01-24]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2022

PubMed DOI Crossref
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
Kanoni S, Graham SE, Wang Y, ..., Assimes TL, Peloso GM
Genome Biol. 23 (1) 268 [2022-12-27; online 2022-12-27]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Leukocyte DNA methylation in Alzheimer´s disease associated genes: replication of findings from neuronal cells.
Karlsson IK, Ploner A, Wang Y, ..., Pedersen NL, Hägg S
Epigenetics - (-) 1-5 [2022-12-26; online 2022-12-26]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Investigation of the Virome and Characterization of Issyk-Kul Virus from Swedish Myotis brandtii Bats.
Cholleti H, de Jong J, Blomström AL, Berg M
Pathogens 12 (1) - [2022-12-21; online 2022-12-21]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gene Networks and Pathways Involved in LPS-Induced Proliferative Response of Bovine Endometrial Epithelial Cells.
Najafi M, Guo Y, Andersson G, Humblot P, Bongcam-Rudloff E
Genes 13 (12) - [2022-12-12; online 2022-12-12]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetics of tibia bone properties of crossbred commercial laying hens in different housing systems.
Johnsson M, Wall H, Lopes Pinto FA, ..., Kindmark A, de Koning DJ
G3 (Bethesda) - (-) - [2022-12-01; online 2022-12-01]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association and Mendelian randomization study of fibroblast growth factor 21 reveals causal associations with hyperlipidemia and possibly NASH.
Larsson SC, Michaëlsson K, Mola-Caminal M, Höijer J, Mantzoros CS
Metabolism 137 (-) 155329 [2022-12-00; online 2022-10-05]
Affinity Proteomics Uppsala [Service] Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Cone-setting in spruce is regulated by conserved elements of the age-dependent flowering pathway.
Akhter S, Westrin KJ, Zivi N, ..., Emanuelsson O, Sundström JF
New Phytol. 236 (5) 1951-1963 [2022-12-00; online 2022-09-16]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Dynamic patterns of blood lipids and DNA methylation in response to statin therapy.
Qin X, Wang Y, Pedersen NL, Tang B, Hägg S
Clin Epigenetics 14 (1) 153 [2022-11-28; online 2022-11-28]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Anti-citrullinated protein antibody specificities and pulmonary fibrosis in relation to genetic loci in early rheumatoid arthritis.
Brink M, Ljung L, Hansson M, ..., Klareskog L, Rantapää-Dahlqvist S
Rheumatology (Oxford) 61 (12) 4985-4990 [2022-11-28; online 2022-05-10]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Stage-specific transposon activity in the life cycle of the fairy-ring mushroom <i>Marasmius oreades</i>.
Hiltunen M, Ament-Velásquez SL, Ryberg M, Johannesson H
Proc. Natl. Acad. Sci. U.S.A. 119 (46) e2208575119 [2022-11-16; online 2022-11-07]
Bioinformatics Support for Computational Resources [Service] NGI Long read [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Meta-analysis of genome-wide association studies of hoarding symptoms in 27,537 individuals.
Strom NI, Smit DJA, Silzer T, ..., Mataix-Cols D, Cath D
Transl Psychiatry 12 (1) 479 [2022-11-15; online 2022-11-15]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits.
Liu L, Khan A, Sanchez-Rodriguez E, ..., Gharavi AG, Kiryluk K
Nat Commun 13 (1) 6859 [2022-11-11; online 2022-11-11]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole genome analyses based on single, field collected spores of the arbuscular mycorrhizal fungus Funneliformis geosporum.
Sahraei SE, Sánchez-García M, Montoliu-Nerin M, ..., Rosendahl S, Rosling A
Mycorrhiza 32 (5-6) 361-371 [2022-11-00; online 2022-09-26]
Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] Microbial Single Cell Genomics [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Strong Association of Combined Genetic Deficiencies in the Classical Complement Pathway With Risk of Systemic Lupus Erythematosus and Primary Sjögren's Syndrome.
Lundtoft C, Sjöwall C, Rantapää-Dahlqvist S, ..., Leonard D, Rönnblom L
Arthritis & rheumatology (Hoboken, N.J.) 74 (11) 1842-1850 [2022-11-00; online 2022-10-07]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Stroke genetics informs drug discovery and risk prediction across ancestries.
Mishra A, Malik R, Hachiya T, ..., Dichgans M, Debette S
Nature 611 (7934) 115-123 [2022-11-00; online 2022-09-30]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease.
Yavuz S, Pucholt P, Sandling JK, ..., Lindblad-Toh K, Rönnblom L
Lupus Sci Med 9 (1) - [2022-11-00; online 2022-11-05]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
Butler-Laporte G, Povysil G, Kosmicki JA, ..., Ferreira MAR, Richards JB
PLoS Genet. 18 (11) e1010367 [2022-11-00; online 2022-11-03]
NGI Short read [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function.
Schuster J, Klar J, Khalfallah A, ..., Birnir B, Dahl N
Front Mol Neurosci 15 (-) 988993 [2022-10-24; online 2022-10-24]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic analyses of the Linum distyly supergene reveal convergent evolution at the molecular level.
Gutiérrez-Valencia J, Fracassetti M, Berdan EL, ..., Arroyo J, Slotte T
Curr. Biol. 32 (20) 4360-4371.e6 [2022-10-24; online 2022-09-09]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Long read [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Glucocorticoids and glucolipotoxicity alter the DNA methylome and function of human EndoC-βH1 cells.
Dos Santos C, Karagiannopoulos A, Rafacho A, ..., Ling C, Bacos K
Life Sciences 307 (-) 120854 [2022-10-15; online 2022-07-30]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comparative genome analysis of mycobacteria focusing on tRNA and non-coding RNA.
Behra PRK, Pettersson BMF, Ramesh M, ..., Dasgupta S, Kirsebom LA
BMC Genomics 23 (1) 704 [2022-10-15; online 2022-10-15]
Bioinformatics Support for Computational Resources [Service] NGI Long read [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Tackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report.
Oldoni E, Saunders G, Bietrix F, ..., Andreu AL, van Gool AJ
Front Mol Biosci 9 (-) 974799 [2022-10-13; online 2022-10-13]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Spatiotemporal variations in retrovirus-host interactions among Darwin's finches.
Hill J, Lillie M, Pettersson ME, ..., Andersson L, Jern P
Nat Commun 13 (1) 6033 [2022-10-13; online 2022-10-13]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Dormant SOX9-positive cells facilitate MYC-driven recurrence of medulloblastoma.
Borgenvik A, Holmberg KO, Bolin S, ..., Weishaupt H, Swartling FJ
Cancer Res. - (-) - [2022-10-11; online 2022-10-11]
Bioinformatics Support for Computational Resources [Service] NGI Single cell [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Absence of oxygen effect on microbial structure and methane production during drying and rewetting events.
Liu T, Li X, Yekta SS, ..., Schnürer A, Enrich-Prast A
Sci Rep 12 (1) 16570 [2022-10-04; online 2022-10-04]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association study of liver enzyme elevation in an extended cohort of rheumatoid arthritis patients starting low-dose methotrexate.
Cavalli M, Eriksson N, Sundbaum JK, ..., Hallberg P, Wadelius M
Pharmacogenomics 23 (15) 813-820 [2022-10-00; online 2022-09-07]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A saturated map of common genetic variants associated with human height.
Yengo L, Vedantam S, Marouli E, ..., Visscher PM, Hirschhorn JN
Nature 610 (7933) 704-712 [2022-10-00; online 2022-10-12]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A possible genomic footprint of polygenic adaptation on population divergence in seed beetles?
Arnqvist G, Sayadi A
Ecol Evol 12 (10) e9440 [2022-10-00; online 2022-10-27]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Loss of SNAI1 induces cellular plasticity in invasive triple-negative breast cancer cells.
Tsirigoti C, Ali MM, Maturi V, Heldin CH, Moustakas A
Cell Death Dis 13 (9) 832 [2022-09-28; online 2022-09-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A novel neo-sex chromosome in Sylvietta brachyura (Macrosphenidae) adds to the extraordinary avian sex chromosome diversity among Sylvioidea songbirds.
Sigeman H, Zhang H, Ali Abed S, Hansson B
J. Evol. Biol. - (-) - [2022-09-26; online 2022-09-26]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Expression Levels of hgcAB Genes and Mercury Availability Jointly Explain Methylmercury Formation in Stratified Brackish Waters.
Capo E, Feng C, Bravo AG, ..., Hawkes J, Björn E
Environ. Sci. Technol. 56 (18) 13119-13130 [2022-09-20; online 2022-09-07]
NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Congenital tremor and splay leg in piglets - insights into the virome, local cytokine response, and histology.
Stenberg H, Hellman S, Lindström L, ..., Hayer J, Malmberg M
BMC Vet Res 18 (1) 348 [2022-09-16; online 2022-09-16]
Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic evidence that a sexually selected trait captures genome-wide variation and facilitates the purging of genetic load.
Parrett JM, Chmielewski S, Aydogdu E, ..., Konczal M, Radwan J
Nat Ecol Evol 6 (9) 1330-1342 [2022-09-00; online 2022-07-18]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic and gene expression associations to morphology of a sexual ornament in the chicken.
Bakovic V, Höglund A, Martin Cerezo ML, Henriksen R, Wright D
G3 (Bethesda) 12 (9) jkac174 [2022-08-25; online 2022-07-09]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Seasonal dynamics in picocyanobacterial abundance and clade composition at coastal and offshore stations in the Baltic Sea.
Zufia JA, Legrand C, Farnelid H
Sci Rep 12 (1) 14330 [2022-08-22; online 2022-08-22]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Characterization of hemocytes and hematopoietic cells of a freshwater crayfish based on single-cell transcriptome analysis.
Söderhäll I, Fasterius E, Ekblom C, Söderhäll K
iScience 25 (8) 104850 [2022-08-19; online 2022-08-02]
Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Single cell [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Ecosystem size-induced environmental fluctuations affect the temporal dynamics of community assembly mechanisms.
Bier RL, Vass M, Székely AJ, Langenheder S
ISME J 16 (12) 2635-2643 [2022-08-18; online 2022-08-18]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Isolated Grauer's gorilla populations differ in diet and gut microbiome.
Michel A, Minocher R, Niehoff PP, ..., Caillaud D, Guschanski K
Mol. Ecol. - (-) - [2022-08-17; online 2022-08-17]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Nuclear-specific gene expression in heterokaryons of the filamentous ascomycete Neurospora tetrasperma.
Meunier C, Darolti I, Reimegård J, Mank JE, Johannesson H
Proc. Biol. Sci. 289 (1980) 20220971 [2022-08-10; online 2022-08-10]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification and functional characterization of a novel susceptibility locus for small vessel vasculitis with MPO-ANCA.
Dahlqvist J, Ekman D, Sennblad B, ..., Eriksson P, Lindblad-Toh K
Rheumatology (Oxford) 61 (8) 3461-3470 [2022-08-03; online 2021-12-11]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A relationship between phages and organic carbon in wastewater treatment plant effluents.
Modin O, Fuad N, Abadikhah M, ..., Persson F, Wilén BM
Water Res X 16 (-) 100146 [2022-08-01; online 2022-06-16]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Human adaptation to arsenic in Bolivians living in the Andes.
De Loma J, Vicente M, Tirado N, ..., Schlebusch CM, Broberg K
Chemosphere 301 (-) 134764 [2022-08-00; online 2022-04-28]
Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Long read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases.
Lundtoft C, Pucholt P, Martin M, ..., Svenungsson E, Rönnblom L
Arthritis & rheumatology (Hoboken, N.J.) 74 (8) 1440-1450 [2022-08-00; online 2022-06-27]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A polygenic architecture with habitat-dependent effects underlies ecological differentiation in Silene.
Gramlich S, Liu X, Favre A, Buerkle CA, Karrenberg S
New Phytol. 235 (4) 1641-1652 [2022-08-00; online 2022-06-23]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
Ramdas S, Judd J, Graham SE, ..., Zhu X, Brown CD
The American Journal of Human Genetics 109 (8) 1366-1387 [2022-08-00; online 2022-08-00]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Characterization of Pipistrellus pygmaeus Bat Virome from Sweden.
Cholleti H, de Jong J, Blomström AL, Berg M
Viruses 14 (8) - [2022-07-28; online 2022-07-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Restricted X chromosome introgression and support for Haldane's rule in hybridizing damselflies.
Swaegers J, Sánchez-Guillén RA, Chauhan P, Wellenreuther M, Hansson B
Proc. Biol. Sci. 289 (1979) 20220968 [2022-07-27; online 2022-07-20]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells.
Khatri B, Tessneer KL, Rasmussen A, ..., Nordmark G, Lessard CJ
Nat Commun 13 (1) 4287 [2022-07-27; online 2022-07-27]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Lipoxins reduce obesity-induced adipose tissue inflammation in 3D-cultured human adipocytes and explant cultures.
Soták M, Rajan MR, Clark M, ..., Lange S, Börgeson E
iScience 25 (7) 104602 [2022-07-15; online 2022-06-11]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Equilibrated evolution of the mixed auto-/allopolyploid haplotype-resolved genome of the invasive hexaploid Prussian carp.
Kuhl H, Du K, Schartl M, ..., Stöck M, Lamatsch DK
Nat Commun 13 (1) 4092 [2022-07-14; online 2022-07-14]
Bioinformatics Support for Computational Resources [Service] NGI Other [Service] NGI Short read [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Single-cell transcriptional pharmacodynamics of trifluridine in a tumor-immune model.
Selvin T, Fasterius E, Jarvius M, ..., Larsson R, Andersson CR
Sci Rep 12 (1) 11960 [2022-07-13; online 2022-07-13]
Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Single cell [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Co-Occurrence of Francisella, Spotted Fever Group Rickettsia, and Midichloria in Avian-Associated Hyalomma rufipes
Hoffman T, Sjödin A, Öhrman C, ..., Lundkvist Å, Olsen B
Microorganisms 10 (7) 1393 [2022-07-11; online 2022-07-11]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Microplastic exposure across trophic levels: effects on the host-microbiota of freshwater organisms.
Varg JE, Outomuro D, Kunce W, ..., Svanbäck R, Johansson F
Environ Microbiome 17 (1) 36 [2022-07-06; online 2022-07-06]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Practical application of a Bayesian network approach to poultry epigenetics and stress.
Videla Rodriguez EA, Pértille F, Guerrero-Bosagna C, ..., Jensen P, Smith VA
BMC Bioinformatics 23 (1) 261 [2022-07-01; online 2022-07-01]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Allorecognition genes drive reproductive isolation in Podospora anserina.
Ament-Velásquez SL, Vogan AA, Granger-Farbos A, ..., Clavé C, Johannesson H
Nat Ecol Evol 6 (7) 910-923 [2022-07-00; online 2022-05-12]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
Kostecka A, Nowikiewicz T, Olszewski P, ..., Dumanski JP, Piotrowski A
NPJ Breast Cancer 8 (1) 76 [2022-06-29; online 2022-06-29]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
MYCN induces cell-specific tumorigenic growth in RB1-proficient human retinal organoid and chicken retina models of retinoblastoma.
Blixt MKE, Hellsand M, Konjusha D, ..., Ring H, Hallböök F
Oncogenesis 11 (1) 34 [2022-06-21; online 2022-06-21]
Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies.
Gorski M, Rasheed H, Teumer A, ..., Kronenberg F, Heid IM
Kidney Int. - (-) - [2022-06-16; online 2022-06-16]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.
Winkler TW, Rasheed H, Teumer A, ..., Pattaro C, Heid IM
Commun Biol 5 (1) 580 [2022-06-13; online 2022-06-13]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Accelerated epigenetic aging in suicide attempters uninfluenced by high intent-to-die and choice of lethal methods.
Jokinen J, Andersson P, Chatzittofis A, ..., Åsberg M, Boström ADE
Transl Psychiatry 12 (1) 224 [2022-06-02; online 2022-06-02]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The HDAC9-associated risk locus promotes coronary artery disease by governing TWIST1.
Ma L, Bryce NS, Turner AW, ..., Björkegren JLM, Kovacic JC
PLoS Genet. 18 (6) e1010261 [2022-06-00; online 2022-06-17]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Single base substitution and insertion/deletion mutational signatures in adult core binding factor acute myeloid leukemia.
Gunnarsson R, Yang M, Biloglav A, ..., Paulsson K, Johansson B
Leukemia 36 (6) 1681-1684 [2022-06-00; online 2022-04-01]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Improving lithium dose prediction using population pharmacokinetics and pharmacogenomics: a cohort genome-wide association study in Sweden
Millischer V, Matheson GJ, Bergen SE, ..., Lavebratt C, Schalling M
The Lancet Psychiatry 9 (6) 447-457 [2022-06-00; online 2022-06-00]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic determinants of mannose-binding lectin activity predispose to thromboembolic complications in critical COVID-19.
Hultström M, Frithiof R, Grip J, ..., Zeberg H, Eriksson O
Nat. Immunol. 23 (6) 861-864 [2022-06-00; online 2022-05-27]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Chronic Obstructive Pulmonary Disease Is Associated with Epigenome-Wide Differential Methylation in BAL Lung Cells.
Eriksson Ström J, Kebede Merid S, Pourazar J, ..., Behndig AF, Melén E
Am J Respir Cell Mol Biol 66 (6) 638-647 [2022-06-00; online 2022-03-15]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Ancient DNA from a 2700-year-old goitered gazelle (Gazella subgutturosa) supports gazelle hunting in Iron Age Central Asia.
Rodrigues Soares AE, Boroffka N, Schröder O, ..., Benecke N, Günther T
R. Soc. open sci. 9 (6) 220104 [2022-06-00; online 2022-06-15]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Development of gut microbiota during the first 2 years of life.
Wernroth ML, Peura S, Hedman AM, ..., Dicksved J, Fall T
Sci Rep 12 (1) 9080 [2022-05-31; online 2022-05-31]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
An empirical evaluation of genotype imputation of ancient DNA.
Ausmees K, Sanchez-Quinto F, Jakobsson M, Nettelblad C
G3 (Bethesda) 12 (6) - [2022-05-30; online 2022-04-29]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia.
Fineschi S, Klar J, Gustafsson KA, ..., Karlsson B, Dahl N
Front Immunol 13 (-) 874490 [2022-05-26; online 2022-05-26]
Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Challenges in Analyzing Functional Epigenetic Data in Perspective of Adolescent Psychiatric Health.
Manu DM, Mwinyi J, Schiöth HB
Int J Mol Sci 23 (10) - [2022-05-23; online 2022-05-23]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Environmentally induced DNA methylation is inherited across generations in an aquatic keystone species.
Feiner N, Radersma R, Vasquez L, ..., Heijmans BT, Uller T
iScience 25 (5) 104303 [2022-05-20; online 2022-04-25]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss.
Trpchevska N, Freidin MB, Broer L, ..., Williams FMK, Nagtegaal AP
Am. J. Hum. Genet. 109 (6) 1077-1091 [2022-05-12; online 2022-05-12]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Ivermectin-induced gene expression changes in adult Parascaris univalens and Caenorhabditis elegans: a comparative approach to study anthelminthic metabolism and resistance in vitro.
Dube F, Hinas A, Roy S, ..., Svärd S, Tydén E
Parasit Vectors 15 (1) 158 [2022-05-05; online 2022-05-05]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comparison of methodological approaches to the study of young sex chromosomes: A case study in Poecilia.
Darolti I, Almeida P, Wright AE, Mank JE
J. Evol. Biol. 35 (12) 1646-1658 [2022-05-04; online 2022-05-04]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic Landscape of the ACE2 Coronavirus Receptor.
Yang Z, Macdonald-Dunlop E, Chen J, ..., Wilson JF, Shen X
Circulation 145 (18) 1398-1411 [2022-05-03; online 2022-04-07]
Affinity Proteomics Stockholm [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
HLA variants associated with azathioprine-induced pancreatitis in patients with Crohn's disease.
Ås J, Bertulyte I, Eriksson N, ..., Wadelius M, Hallberg P
Clin Transl Sci 15 (5) 1249-1256 [2022-05-00; online 2022-02-20]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Dual RNA Sequencing Reveals Key Events When Different Giardia Life Cycle Stages Interact With Human Intestinal Epithelial Cells In Vitro.
Rojas L, Grüttner J, Ma'ayeh S, Xu F, Svärd SG
Front. Cell. Infect. Microbiol. 12 (-) 862211 [2022-04-27; online 2022-04-27]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Cell-lineage controlled epigenetic regulation in glioblastoma stem cells determines functionally distinct subgroups and predicts patient survival.
Lu X, Maturi NP, Jarvius M, ..., Uhrbom L, Chen X
Nat Commun 13 (1) 2236 [2022-04-25; online 2022-04-25]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Auxilin is a novel susceptibility gene for congenital heart block which directly impacts fetal heart function.
Meisgen S, Hedlund M, Ambrosi A, ..., Sonesson S, Wahren-Herlenius M
Ann. Rheum. Dis. 81 (8) 1151-1161 [2022-04-25; online 2022-04-25]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Influence of cysteine, serine, sulfate, and sulfide on anaerobic conversion of unsaturated long-chain fatty acid, oleate, to methane.
Shakeri Yekta S, Elreedy A, Liu T, ..., Fujii M, Schnürer A
Sci. Total Environ. 817 (-) 152967 [2022-04-15; online 2022-01-10]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] Swedish NMR Centre (SNC) [Collaborative]
PubMed DOI Crossref
HPA-axis dysregulation is not associated with accelerated epigenetic aging in patients with hypersexual disorder.
Boström ADE, Andersson P, Chatzittofis A, ..., Arver S, Jokinen J
Psychoneuroendocrinology 141 (-) 105765 [2022-04-14; online 2022-04-14]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
scSPLAT, a scalable plate-based protocol for single cell WGBS library preparation.
Raine A, Lundmark A, Annett A, ..., Bergin C, Nordlund J
Sci Rep 12 (1) 5772 [2022-04-06; online 2022-04-06]
Bioinformatics Support for Computational Resources [Service] Microbial Single Cell Genomics NGI Single cell [Technology development] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Next Generation Plasma Proteomics Identifies High-Precision Biomarker Candidates for Ovarian Cancer.
Gyllensten U, Hedlund-Lindberg J, Svensson J, ..., Åberg M, Enroth S
Cancers (Basel) 14 (7) - [2022-03-30; online 2022-03-30]
Affinity Proteomics Uppsala [Collaborative] NGI Proteomics [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Inflammation and neutrophil extracellular traps in cerebral cavernous malformation.
Yau ACY, Globisch MA, Onyeogaziri FC, ..., Dejana E, Magnusson PU
Cell. Mol. Life Sci. 79 (4) 206 [2022-03-25; online 2022-03-25]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Near Chromosome-Level Genome Assembly and Annotation of Rhodotorula babjevae Strains Reveals High Intraspecific Divergence.
Martín-Hernández GC, Müller B, Brandt C, ..., Viehweger A, Passoth V
JoF 8 (4) - [2022-03-22; online 2022-03-22]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
GWAS in people of Middle Eastern descent reveals a locus protective of kidney function-a cross-sectional study.
Mohamed SA, Fernadez-Tajes J, Franks PW, Bennet L
BMC Med 20 (1) 76 [2022-03-01; online 2022-03-01]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole-genome resequencing of temporally stratified samples reveals substantial loss of haplotype diversity in the highly inbred Scandinavian wolf population.
Viluma A, Flagstad Ø, Åkesson M, ..., Wabakken P, Ellegren H
Genome Res. 32 (3) 449-458 [2022-03-00; online 2022-02-08]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The Genetic Architecture of Obsessive-Compulsive Disorder: Contribution of Liability to OCD From Alleles Across the Frequency Spectrum.
Mahjani B, Klei L, Mattheisen M, ..., Devlin B, Grice DE
Am J Psychiatry 179 (3) 216-225 [2022-03-00; online 2021-11-18]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Loss of Y and clonal hematopoiesis in blood-two sides of the same coin?
Ljungström V, Mattisson J, Halvardson J, ..., Baliakas P, Forsberg LA
Leukemia 36 (3) 889-891 [2022-03-00; online 2021-11-01]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics Uppsala [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The Value of Whole-Genome Sequencing for Mitochondrial DNA Population Studies: Strategies and Criteria for Extracting High-Quality Mitogenome Haplotypes.
Sturk-Andreaggi K, Ring JD, Ameur A, ..., Marshall C, Allen M
Int J Mol Sci 23 (4) - [2022-02-17; online 2022-02-17]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
The miRNome function transitions from regulating developmental genes to transposable elements during pollen maturation.
Oliver C, Annacondia ML, Wang Z, ..., Köhler C, Martinez G
Plant Cell 34 (2) 784-801 [2022-02-03; online 2021-11-11]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Heterochiasmy and the establishment of gsdf as a novel sex determining gene in Atlantic halibut.
Edvardsen RB, Wallerman O, Furmanek T, ..., Norberg B, Rubin CJ
PLoS Genet. 18 (2) e1010011 [2022-02-00; online 2022-02-08]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A genomic and morphometric analysis of alpine bumblebees: Ongoing reductions in tongue length but no clear genetic component.
Christmas MJ, Jones JC, Olsson A, ..., Miller-Struttmann NE, Webster MT
Mol. Ecol. 31 (4) 1111-1127 [2022-02-00; online 2021-12-07]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Long read [Collaborative] NGI Short read [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
A Verticillium longisporum pleiotropic drug transporter determines tolerance to the plant host β-pinene monoterpene.
Rafiei V, Ruffino A, Persson Hodén K, ..., Dubey M, Tzelepis G
Mol. Plant Pathol. 23 (2) 291-303 [2022-02-00; online 2021-11-26]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Massive genome inversion drives coexistence of divergent morphs in common quails.
Sanchez-Donoso I, Ravagni S, Rodríguez-Teijeiro JD, ..., Leonard JA, Vilà C
Curr. Biol. 32 (2) 462-469.e6 [2022-01-24; online 2021-11-29]
NGI Short read [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptomic analysis reveals proinflammatory signatures associated with acute myeloid leukemia progression.
Stratmann S, Yones SA, Garbulowski M, ..., Komorowski J, Holmfeldt L
Blood Adv 6 (1) 152-164 [2022-01-11; online 2021-10-08]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics Uppsala [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic Signatures of Sexual Selection on Pollen-Expressed Genes in Arabis alpina.
Gutiérrez-Valencia J, Fracassetti M, Horvath R, ..., Kolář F, Slotte T
Mol. Biol. Evol. 39 (1) - [2022-01-07; online 2021-12-09]
Bioinformatics Long-term Support WABI [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Risk of Revision After Arthroplasty Associated with Specific Gene Loci: A Genomewide Association Study of Single-Nucleotide Polymorphisms in 1,130 Twins Treated with Arthroplasty.
Brüggemann A, Eriksson N, Michaëlsson K, Hailer NP
J Bone Joint Surg Am 104 (7) 610-620 [2022-01-04; online 2022-01-04]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptome sequencing of archived lymphoma specimens is feasible and clinically relevant using exome capture technology.
Skaftason A, Qu Y, Abdulla M, ..., Rosenquist R, Mansouri L
Genes Chromosomes Cancer 61 (1) 27-36 [2022-01-00; online 2021-10-23]
Clinical Genomics Uppsala [Service] NGI Short read [Technology development] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Fallerini C, Picchiotti N, Baldassarri M, ..., Renieri A, Furini S
Hum. Genet. 141 (1) 147-173 [2022-01-00; online 2021-12-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2021

PubMed DOI Crossref
Meta-analyses identify DNA methylation associated with kidney function and damage.
Schlosser P, Tin A, Matias-Garcia PR, ..., Köttgen A, Teumer A
Nat Commun 12 (1) 7174 [2021-12-09; online 2021-12-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus.
Tin A, Schlosser P, Matias-Garcia PR, ..., Teumer A, Köttgen A
Nat Commun 12 (1) 7173 [2021-12-09; online 2021-12-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Male-biased migration from East Africa introduced pastoralism into southern Africa.
Vicente M, Lankheet I, Russell T, ..., Jongh M, Schlebusch CM
BMC Biol. 19 (1) 259 [2021-12-07; online 2021-12-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The SEQC2 epigenomics quality control (EpiQC) study.
Foox J, Nordlund J, Lalancette C, ..., Deng Y, Mason CE
Genome Biol. 22 (1) 332 [2021-12-06; online 2021-12-06]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
The power of genetic diversity in genome-wide association studies of lipids.
Graham SE, Clarke SL, Wu KH, ..., Sun YV, Willer CJ
Nature 600 (7890) 675-679 [2021-12-00; online 2021-12-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The genomics of heart failure: design and rationale of the HERMES consortium.
Lumbers RT, Shah S, Lin H, ..., Vasan RS, Smith JG
ESC Heart Failure 8 (6) 5531-5541 [2021-12-00; online 2021-09-03]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Pyramiding of scald resistance genes in four spring barley MAGIC populations.
Hautsalo J, Novakazi F, Jalli M, ..., Bengtsson T, PPP Barley Consortium
Theor. Appl. Genet. 134 (12) 3829-3843 [2021-12-00; online 2021-08-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic variants at the RTP4/MASP1 locus are associated with fatigue in Scandinavian patients with primary Sjögren's syndrome.
Norheim KB, Imgenberg-Kreuz J, Alexsson A, ..., Ronnblom L, Omdal R
RMD Open 7 (3) - [2021-12-00; online 2021-12-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Expression of BCL6 in paediatric B-cell acute lymphoblastic leukaemia and association with prognosis.
Mäkinen A, Nikkilä A, Mehtonen J, ..., Paavonen T, Lohi O
Pathology 53 (7) 875-882 [2021-12-00; online 2021-05-26]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Single cell genomics reveals plastid-lacking Picozoa are close relatives of red algae.
Schön ME, Zlatogursky VV, Singh RP, ..., Wideman JG, Burki F
Nat Commun 12 (1) 6651 [2021-11-17; online 2021-11-17]
Bioinformatics Support for Computational Resources [Service] Microbial Single Cell Genomics [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comparison of EM-seq and PBAT methylome library methods for low-input DNA.
Han Y, Zheleznyakova GY, Marincevic-Zuniga Y, ..., Needhamsen M, Jagodic M
Epigenetics 17 (10) 1195-1204 [2021-11-17; online 2021-11-17]
NGI Short read [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.
Grosche S, Marenholz I, Esparza-Gordillo J, ..., Xu C, Lee Y
Nat Commun 12 (1) 6618 [2021-11-16; online 2021-11-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Palmdelphin Regulates Nuclear Resilience to Mechanical Stress in the Endothelium.
Sáinz-Jaspeado M, Smith RO, Plunde O, ..., Bäck M, Claesson-Welsh L
Circulation 144 (20) 1629-1645 [2021-11-16; online 2021-10-12]
Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] Global Proteomics and Proteogenomics [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study.
Zhao Y, Fang LT, Shen T, ..., Hong H, Xiao W
Sci Data 8 (1) 296 [2021-11-09; online 2021-11-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
A common polymorphism in the dopamine transporter gene predicts working memory performance and in vivo dopamine integrity in aging.
Karalija N, Köhncke Y, Düzel S, ..., Lindenberger U, Brandmaier AM
Neuroimage 245 (-) 118707 [2021-11-03; online 2021-11-03]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
BMP2-induction of FN14 promotes protumorigenic signaling in gynecologic cancer cells.
Fukuda T, Fukuda R, Koinuma D, ..., Miyazono K, Heldin CH
Cell. Signal. 87 (-) 110146 [2021-11-00; online 2021-09-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The oral microbiota of wild bears in Sweden reflects the history of antibiotic use by humans.
Brealey JC, Leitão HG, Hofstede T, Kalthoff DC, Guschanski K
Curr. Biol. 31 (20) 4650-4658.e6 [2021-10-25; online 2021-08-25]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Milking system and premilking routines have strong effect on the microbial community in bulk tank milk.
Sun L, Lundh Å, Höjer A, ..., Saedén KH, Dicksved J
J Dairy Sci - (-) - [2021-10-22; online 2021-10-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Frailty and the risk of dementia: is the association explained by shared environmental and genetic factors?
Bai G, Wang Y, Kuja-Halkola R, ..., Hägg S, Jylhävä J
BMC Med 19 (1) 248 [2021-10-18; online 2021-10-18]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
RNA sequencing reveals metabolic and regulatory changes leading to more robust fermentation performance during short-term adaptation of Saccharomyces cerevisiae to lignocellulosic inhibitors.
van Dijk M, Rugbjerg P, Nygård Y, Olsson L
Biotechnol Biofuels 14 (1) 201 [2021-10-15; online 2021-10-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Cis-acting mutation affecting GJA5 transcription is underlying the Melanotic within-feather pigmentation pattern in chickens.
Li J, Lee MO, Chen J, ..., Chuong CM, Andersson L
Proc. Natl. Acad. Sci. U.S.A. 118 (41) - [2021-10-12; online 2021-10-06]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Philippine Ayta possess the highest level of Denisovan ancestry in the world.
Larena M, McKenna J, Sanchez-Quinto F, ..., Endicott P, Jakobsson M
Curr. Biol. 31 (19) 4219-4230.e10 [2021-10-11; online 2021-08-12]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
HPA axis dysregulation is associated with differential methylation of CpG-sites in related genes.
Chatzittofis A, Boström ADE, Ciuculete DM, ..., Schiöth HB, Jokinen J
Sci Rep 11 (1) 20134 [2021-10-11; online 2021-10-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Chromosome-level genome assembly and transcriptome-based annotation of the oleaginous yeast Rhodotorula toruloides CBS 14.
Martín-Hernández GC, Müller B, Chmielarz M, ..., Viehweger A, Passoth V
Genomics 113 (6) 4022-4027 [2021-10-11; online 2021-10-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Distinct B cell subsets in Peyer's patches convey probiotic effects by Limosilactobacillus reuteri.
Liu HY, Giraud A, Seignez C, ..., Bertilsson S, Phillipson M
Microbiome 9 (1) 198 [2021-10-03; online 2021-10-03]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Pregnancy-related hormones and COMT genotype: Associations with maternal working memory.
Amiel Castro R, Kunovac Kallak T, Sundström Poromaa I, ..., Ehlert U, Skalkidou A
Psychoneuroendocrinology 132 (-) 105361 [2021-10-00; online 2021-07-17]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Maternal genetic origin of the late and final Neolithic human populations from present-day Poland.
Juras A, Ehler E, Chyleński M, ..., Jakobsson M, Dabert M
Am. J. Phys. Anthropol. 176 (2) 223-236 [2021-10-00; online 2021-07-26]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association study of liver enzyme elevation in rheumatoid arthritis patients starting methotrexate.
Sundbaum JK, Baecklund E, Eriksson N, ..., Wadelius M, Hallberg P
Pharmacogenomics 22 (15) 973-982 [2021-10-00; online 2021-09-15]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DE-ETIOLATED1 has a role in the circadian clock of the liverwort Marchantia polymorpha.
Lagercrantz U, Billhardt A, Rousku SN, ..., Reza SH, Eklund DM
New Phytol. 232 (2) 595-609 [2021-10-00; online 2021-08-19]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
ZBED6 regulates Igf2 expression partially through its regulation of miR483 expression.
Naboulsi R, Larsson M, Andersson L, Younis S
Sci Rep 11 (1) 19484 [2021-09-30; online 2021-09-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
In-depth Phylogenomic Analysis of Arbuscular Mycorrhizal Fungi Based on a Comprehensive Set of de novo Genome Assemblies
Montoliu-Nerin M, Sánchez-García M, Bergin C, ..., Bever JD, Rosling A
Front. Fungal Biol. 2 (-) - [2021-09-29; online 2021-09-29]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Microbial Single Cell Genomics [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Avian neo-sex chromosomes reveal dynamics of recombination suppression and W degeneration.
Sigeman H, Strandh M, Proux-Wéra E, ..., Westerdahl H, Hansson B
Mol. Biol. Evol. 38 (12) 5275-5291 [2021-09-20; online 2021-09-20]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Dual RNA-seq transcriptome analysis of caecal tissue during primary Eimeria tenella infection in chickens.
Sandholt AKS, Wattrang E, Lilja T, ..., Svärd SG, Söderlund R
BMC Genomics 22 (1) 660 [2021-09-14; online 2021-09-14]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The avian W chromosome is a refugium for endogenous retroviruses with likely effects on female-biased mutational load and genetic incompatibilities.
Peona V, Palacios-Gimenez OM, Blommaert J, ..., Jern P, Suh A
Philos. Trans. R. Soc. Lond., B, Biol. Sci. 376 (1833) 20200186 [2021-09-13; online 2021-07-26]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Temporally balanced selection during development of larval Pacific oysters (Crassostrea gigas) inherently preserves genetic diversity within offspring.
Durland E, De Wit P, Langdon C
Proc. Biol. Sci. 288 (1958) 20203223 [2021-09-08; online 2021-09-01]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing.
Xiao W, Ren L, Chen Z, ..., Wang C, Shi L
Nat. Biotechnol. 39 (9) 1141-1150 [2021-09-00; online 2021-09-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
The genetic consequences of dog breed formation-Accumulation of deleterious genetic variation and fixation of mutations associated with myxomatous mitral valve disease in cavalier King Charles spaniels.
Axelsson E, Ljungvall I, Bhoumik P, ..., Häggström J, Lindblad-Toh K
PLoS Genet. 17 (9) e1009726 [2021-09-00; online 2021-09-02]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Positive selection plays a major role in shaping signatures of differentiation across the genomic landscape of two independent Ficedula flycatcher species pairs.
Chase MA, Ellegren H, Mugal CF
Evolution 75 (9) 2179-2196 [2021-09-00; online 2021-05-03]
Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Interaction between the STAT4 rs11889341(T) risk allele and smoking confers increased risk of myocardial infarction and nephritis in patients with systemic lupus erythematosus.
Reid S, Hagberg N, Sandling JK, ..., Rönnblom L, Leonard D
Ann. Rheum. Dis. 80 (9) 1183-1189 [2021-09-00; online 2021-03-25]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing.
Fang LT, Zhu B, Zhao Y, ..., Xiao W, Somatic Mutation Working Group of Sequencing Quality Control Phase II Consortium
Nat. Biotechnol. 39 (9) 1151-1160 [2021-09-00; online 2021-09-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease.
Wightman DP, Jansen IE, Savage JE, ..., Andreassen OA, Posthuma D
Nat. Genet. 53 (9) 1276-1282 [2021-09-00; online 2021-09-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A genome-wide association study of the frailty index highlights brain pathways in ageing.
Atkins JL, Jylhävä J, Pedersen NL, ..., Williams DM, Pilling LC
Aging Cell 20 (9) e13459 [2021-09-00; online 2021-08-25]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Consistent B Cell Receptor Immunoglobulin Features Between Siblings in Familial Chronic Lymphocytic Leukemia.
Kolijn PM, Muggen AF, Ljungström V, ..., Rosenquist R, Langerak AW
Front Oncol 11 (-) 740083 [2021-08-26; online 2021-08-26]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Haplotype-Specific Expression Analysis of MHC Class II Genes in Healthy Individuals and Rheumatoid Arthritis Patients.
Houtman M, Hesselberg E, Rönnblom L, ..., Malmström V, Padyukov L
Front Immunol 12 (-) 707217 [2021-08-17; online 2021-08-17]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Association of Variants Near the Bradykinin Receptor B2 Gene With Angioedema in Patients Taking ACE Inhibitors.
Ghouse J, Ahlberg G, Andreasen L, ..., Bundgaard H, Olesen MS
J. Am. Coll. Cardiol. 78 (7) 696-709 [2021-08-17; online 2021-08-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Microbiological Surveillance of Biogas Plants: Targeting Acetogenic Community.
Singh A, Moestedt J, Berg A, Schnürer A
Front Microbiol 12 (-) 700256 [2021-08-16; online 2021-08-16]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Characterization of Dynamic Regulatory Gene and Protein Networks in Wheat Roots Upon Perceiving Water Deficit Through Comparative Transcriptomics Survey.
Rahimi Y, Ingvarsson PK, Bihamta MR, ..., Taleei A, Khoshnoodi Jabar Abadi S
Front Plant Sci 12 (-) 710867 [2021-08-16; online 2021-08-16]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptome Analysis of Post-Mortem Brain Tissue Reveals Up-Regulation of the Complement Cascade in a Subgroup of Schizophrenia Patients.
Lindholm Carlström E, Niazi A, Etemadikhah M, ..., Nilsson B, Feuk L
Genes 12 (8) - [2021-08-13; online 2021-08-13]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia.
Sayyab S, Lundmark A, Larsson M, ..., Nordlund J, Syvänen A
Sci Rep 11 (1) 15988 [2021-08-06; online 2021-08-06]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia.
Natarajan K, Eisfeldt J, Hammond M, ..., Öijerstedt L, Graff C
Acta Neuropathol Commun 9 (1) 132 [2021-08-03; online 2021-08-03]
Affinity Proteomics Uppsala [Technology development] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Long- and short-read metabarcoding technologies reveal similar spatiotemporal structures in fungal communities.
Furneaux B, Bahram M, Rosling A, Yorou NS, Ryberg M
Mol Ecol Resour 21 (6) 1833-1849 [2021-08-00; online 2021-05-06]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic inference of contemporary effective population size in a large island population of collared flycatchers (Ficedula albicollis).
Nadachowska-Brzyska K, Dutoit L, Smeds L, ..., Gustafsson L, Ellegren H
Mol. Ecol. 30 (16) 3965-3973 [2021-08-00; online 2021-07-01]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic insights into biological mechanisms governing human ovarian ageing.
Ruth KS, Day FR, Hussain J, ..., Roig I, Perry JRB
Nature 596 (7872) 393-397 [2021-08-00; online 2021-08-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic association study of childhood aggression across raters, instruments, and age.
Ip HF, van der Laan CM, Krapohl EML, ..., Nivard MG, Boomsma DI
Transl Psychiatry 11 (1) 413 [2021-07-30; online 2021-07-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99.
Mattisson J, Danielsson M, Hammond M, ..., Halvardson J, Forsberg LA
Sci Rep 11 (1) 15160 [2021-07-26; online 2021-07-26]
Affinity Proteomics Uppsala [Technology development] Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Genome of Peştera Muierii skull shows high diversity and low mutational load in pre-glacial Europe.
Svensson E, Günther T, Hoischen A, ..., Netea MG, Jakobsson M
Curr. Biol. 31 (14) 2973-2983.e9 [2021-07-26; online 2021-05-18]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients.
Wendt C, Muranen TA, Mielikäinen L, ..., Borg Å, Lindblom A
Sci Rep 11 (1) 14763 [2021-07-20; online 2021-07-20]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DNA Methylation-Based Interferon Scores Associate With Sub-Phenotypes in Primary Sjögren's Syndrome.
Imgenberg-Kreuz J, Sandling JK, Norheim KB, ..., Eloranta ML, Nordmark G
Front Immunol 12 (-) 702037 [2021-07-16; online 2021-07-16]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Single-cell RNAseq and longitudinal proteomic analysis of a novel semi-spontaneous urothelial cancer model reveals tumor cell heterogeneity and pretumoral urine protein alterations.
Kerzeli IK, Lord M, Doroszko M, ..., Segersten U, Mangsbo SM
PLoS ONE 16 (7) e0253178 [2021-07-07; online 2021-07-07]
Affinity Proteomics Uppsala [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Common and mutation specific phenotypes of KRAS and BRAF mutations in colorectal cancer cells revealed by integrative -omics analysis.
Kundu S, Ali MA, Handin N, ..., Globisch D, Sjöblom T
J. Exp. Clin. Cancer Res. 40 (1) 225 [2021-07-07; online 2021-07-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comparative analyses of the Hymenoscyphus fraxineus and Hymenoscyphus albidus genomes reveals potentially adaptive differences in secondary metabolite and transposable element repertoires.
Elfstrand M, Chen J, Cleary M, ..., Stadler M, Durling MB
BMC Genomics 22 (1) 503 [2021-07-04; online 2021-07-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole genome sequencing reveals high differentiation, low levels of genetic diversity and short runs of homozygosity among Swedish wels catfish.
Jensen A, Lillie M, Bergström K, Larsson P, Höglund J
Heredity (Edinb) 127 (1) 79-91 [2021-07-00; online 2021-05-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Variants in BANK1 are associated with lupus nephritis of European ancestry.
Bolin K, Imgenberg-Kreuz J, Leonard D, ..., Rönnblom L, Nordmark G
Genes Immun. 22 (3) 194-202 [2021-07-00; online 2021-06-14]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
On the origin of the widespread self-compatible allotetraploid Capsella bursa-pastoris (Brassicaceae).
Bachmann JA, Tedder A, Fracassetti M, ..., Köhler C, Slotte T
Heredity (Edinb) 127 (1) 124-134 [2021-07-00; online 2021-04-19]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Insights into the multitrophic interactions between the biocontrol agent Bacillus subtilis MBI 600, the pathogen Botrytis cinerea and their plant host.
Samaras A, Karaoglanidis GS, Tzelepis G
Microbiol Res 248 (-) 126752 [2021-07-00; online 2021-04-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Extreme Y chromosome polymorphism corresponds to five male reproductive morphs of a freshwater fish.
Sandkam BA, Almeida P, Darolti I, ..., Breden F, Mank JE
Nat Ecol Evol 5 (7) 939-948 [2021-07-00; online 2021-05-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Combined prenatal Lactobacillus reuteri and ω-3 supplementation synergistically modulates DNA methylation in neonatal T helper cells.
Huoman J, Martínez-Enguita D, Olsson E, ..., Gustafsson M, Jenmalm MC
Clin Epigenetics 13 (1) 135 [2021-06-30; online 2021-06-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging.
McCartney DL, Min JL, Richmond RC, ..., Horvath S, Marioni RE
Genome Biol. 22 (1) 194 [2021-06-29; online 2021-06-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids.
Jhun M, Mendelson M, Wilson R, ..., Irvin MR, Assimes TL
Nat Commun 12 (1) 3987 [2021-06-28; online 2021-06-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Functional differences between TSHR alleles associate with variation in spawning season in Atlantic herring.
Chen J, Bi H, Pettersson ME, ..., Scheerer P, Andersson L
Commun Biol 4 (1) 795 [2021-06-25; online 2021-06-25]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Toll-like receptor 4 methylation grade is linked to depressive symptom severity.
Rasmusson AJ, Gallwitz M, Soltanabadi B, ..., Schiöth HB, Cunningham JL
Transl Psychiatry 11 (1) 371 [2021-06-24; online 2021-06-24]
Affinity Proteomics Uppsala [Service] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Profiling temporal dynamics of acetogenic communities in anaerobic digesters using next-generation sequencing and T-RFLP.
Singh A, Müller B, Schnürer A
Sci Rep 11 (1) 13298 [2021-06-24; online 2021-06-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The γ-tubulin meshwork assists in the recruitment of PCNA to chromatin in mammalian cells.
Corvaisier M, Zhou J, Malycheva D, ..., Lindström L, Alvarado-Kristensson M
Commun Biol 4 (1) 767 [2021-06-22; online 2021-06-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Differential DNA Methylation of the Genes for Amyloid Precursor Protein, Tau, and Neurofilaments in Human Traumatic Brain Injury.
Abu Hamdeh S, Ciuculete DM, Sarkisyan D, ..., Schiöth HB, Marklund N
J. Neurotrauma 38 (12) 1679-1688 [2021-06-15; online 2021-01-08]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DNA Methylation Signatures Predict Cytogenetic Subtype and Outcome in Pediatric Acute Myeloid Leukemia (AML).
Krali O, Palle J, Bäcklin CL, ..., Zeller B, Nordlund J
Genes 12 (6) 895 [2021-06-10; online 2021-06-10]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.
de Rojas I, Moreno-Grau S, Tesi N, ..., van der Lee SJ, Ruiz A
Nat Commun 12 (1) 3417 [2021-06-07; online 2021-06-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease.
Crawford AA, Bankier S, Altmaier E, ..., Walker BR, CORtisol NETwork (CORNET) consortium
J. Hum. Genet. 66 (6) 625-636 [2021-06-00; online 2021-01-20]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The trans-ancestral genomic architecture of glycemic traits.
Chen J, Spracklen CN, Marenne G, ..., Barroso I, Meta-Analysis of Glucose and Insulin-related Traits Consortium (MAGIC)
Nat. Genet. 53 (6) 840-860 [2021-06-00; online 2021-05-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
RAG1 co-expression signature identifies ETV6-RUNX1-like B-cell precursor acute lymphoblastic leukemia in children.
Chen D, Camponeschi A, Nordlund J, ..., Fogelstrand L, Mårtensson IL
Cancer Med 10 (12) 3997-4003 [2021-06-00; online 2021-05-13]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Methylome and transcriptome signature of bronchoalveolar cells from multiple sclerosis patients in relation to smoking.
Ringh MV, Hagemann-Jensen M, Needhamsen M, ..., Öckinger J, Kular L
Mult. Scler. 27 (7) 1014-1026 [2021-06-00; online 2020-07-30]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci.
de Las Fuentes L, Sung YJ, Noordam R, ..., Rao DC, Fornage M
Mol. Psychiatry 26 (6) 2111-2125 [2021-06-00; online 2020-05-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DNA methylation signatures of aggression and closely related constructs: A meta-analysis of epigenome-wide studies across the lifespan.
van Dongen J, Hagenbeek FA, Suderman M, ..., Bartels M, Boomsma DI
Mol. Psychiatry 26 (6) 2148-2162 [2021-06-00; online 2021-01-08]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic basis of parallel adaptation varies with divergence in Arabidopsis and its relatives.
Bohutínská M, Vlček J, Yair S, ..., Slotte T, Kolář F
Proc. Natl. Acad. Sci. U.S.A. 118 (21) - [2021-05-25; online 2021-05-19]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A combined approach for single-cell mRNA and intracellular protein expression analysis.
Reimegård J, Tarbier M, Danielsson M, ..., Friedländer MR, Gallant CJ
Commun Biol 4 (1) 624 [2021-05-25; online 2021-05-25]
Affinity Proteomics Uppsala [Technology development] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Size Variation of the Nonrecombining Region on the Mating-Type Chromosomes in the Fungal Podospora anserina Species Complex.
Hartmann FE, Ament-Velásquez SL, Vogan AA, ..., Silar P, Giraud T
Mol. Biol. Evol. 38 (6) 2475-2492 [2021-05-19; online 2021-02-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comprehensive dataset of shotgun metagenomes from oxygen stratified freshwater lakes and ponds.
Buck M, Garcia SL, Fernandez L, ..., Bertilsson S, Peura S
Sci Data 8 (1) 131 [2021-05-14; online 2021-05-14]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Freshwater Chlorobia Exhibit Metabolic Specialization among Cosmopolitan and Endemic Populations.
Garcia SL, Mehrshad M, Buck M, ..., Greening C, Peura S
mSystems 6 (3) - [2021-05-11; online 2021-05-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
INT-Hi-C reveals distinct chromatin architecture in endosperm and leaf tissues of Arabidopsis.
Yadav VK, Santos-González J, Köhler C
Nucleic Acids Res. 49 (8) 4371-4385 [2021-05-07; online 2021-03-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetically determined NLRP3 inflammasome activation associates with systemic inflammation and cardiovascular mortality.
Schunk SJ, Kleber ME, März W, ..., eQTLGen consortium , BIOS consortium
Eur. Heart J. 42 (18) 1742-1756 [2021-05-07; online 2021-03-23]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
How to Make a Rodent Giant: Genomic Basis and Tradeoffs of Gigantism in the Capybara, the World's Largest Rodent.
Herrera-Álvarez S, Karlsson E, Ryder OA, Lindblad-Toh K, Crawford AJ
Mol. Biol. Evol. 38 (5) 1715-1730 [2021-05-04; online 2020-11-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The association between genetically determined ABO blood types and major depressive disorder.
Garvert L, Baune BT, Berger K, ..., Grabe HJ, Van der Auwera S
Psychiatry Res 299 (-) 113837 [2021-05-00; online 2021-02-24]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The Enterprise, a massive transposon carrying Spok meiotic drive genes.
Vogan AA, Ament-Velásquez SL, Bastiaans E, ..., Suh A, Johannesson H
Genome Res. 31 (5) 789-798 [2021-05-00; online 2021-04-19]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.
Traylor M, Persyn E, Tomppo L, ..., UK DNA Lacunar Stroke Study Investigators , International Stroke Genetics Consortium
Lancet Neurol 20 (5) 351-361 [2021-05-00; online 2021-03-25]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Dual RNA-Seq transcriptome analysis of chicken macrophage-like cells (HD11) infected in vitro with Eimeria tenella.
Sandholt AKS, Xu F, Söderlund R, ..., Svärd SG, Wattrang E
Parasitology 148 (6) 712-725 [2021-05-00; online 2021-02-04]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
An introgressed gene causes meiotic drive in Neurospora sitophila.
Svedberg J, Vogan AA, Rhoades NA, ..., Hammond TM, Johannesson H
Proc. Natl. Acad. Sci. U.S.A. 118 (17) e2026605118 [2021-04-27; online 2021-04-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenome-wide association study of level and change in cognitive abilities from midlife through late life.
Karlsson IK, Ericsson M, Wang Y, ..., Reynolds CA, Pedersen NL
Clin Epigenetics 13 (1) 85 [2021-04-21; online 2021-04-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
smartPARE: An R Package for Efficient Identification of True mRNA Cleavage Sites.
Persson Hodén K, Hu X, Martinez G, Dixelius C
Int J Mol Sci 22 (8) 4267 [2021-04-20; online 2021-04-20]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The effects of drift and selection on latitudinal genetic variation in Scandinavian common toads (Bufo bufo) following postglacial recolonisation.
Thörn F, Rödin-Mörch P, Cortazar-Chinarro M, ..., Laurila A, Höglund J
Heredity (Edinb) 126 (4) 656-667 [2021-04-00; online 2021-02-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
PD-L1 and IDO1 are potential targets for treatment in patients with primary diffuse large B-cell lymphoma of the CNS.
Abdulla M, Alexsson A, Sundström C, ..., Hollander P, Amini RM
Acta Oncol 60 (4) 531-538 [2021-04-00; online 2021-02-12]
Clinical Genomics Uppsala [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline.
Gorski M, Jung B, Li Y, ..., Pattaro C, Heid IM
Kidney Int. 99 (4) 926-939 [2021-04-00; online 2020-10-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Life-Time Covariation of Major Cardiovascular Diseases: A 40-Year Longitudinal Study and Genetic Studies.
Lind L, Sundström J, Ärnlöv J, ..., Lumbers RT, Lampa E
Circ Genom Precis Med 14 (2) e002963 [2021-04-00; online 2021-02-26]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Later Stone Age human hair from Vaalkrans Shelter, Cape Floristic Region of South Africa, reveals genetic affinity to Khoe groups.
Coutinho A, Malmström H, Edlund H, ..., Schlebusch CM, Jakobsson M
Am. J. Phys. Anthropol. 174 (4) 701-713 [2021-04-00; online 2021-02-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Immune cells lacking Y chromosome show dysregulation of autosomal gene expression.
Dumanski JP, Halvardson J, Davies H, ..., Ryś J, Forsberg LA
Cell. Mol. Life Sci. 78 (8) 4019-4033 [2021-04-00; online 2021-04-10]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Multiple migrations to the Philippines during the last 50,000 years.
Larena M, Sanchez-Quinto F, Sjödin P, ..., Endicott P, Jakobsson M
Proc. Natl. Acad. Sci. U.S.A. 118 (13) - [2021-03-30; online 2021-03-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genotyping Strategies Using ddRAD Sequencing in Farmed Arctic Charr (Salvelinus alpinus).
Pappas F, Palaiokostas C
Animals (Basel) 11 (3) - [2021-03-21; online 2021-03-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Sperm Methylome Profiling Can Discern Fertility Levels in the Porcine Biomedical Model.
Pértille F, Alvarez-Rodriguez M, da Silva AN, ..., Guerrero-Bosagna C, Rodriguez-Martinez H
Int J Mol Sci 22 (5) 2679 [2021-03-06; online 2021-03-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Effluent solids recirculation to municipal sludge digesters enhances long-chain fatty acids degradation capacity.
Shakeri Yekta S, Liu T, Mendes Anacleto T, ..., Björn A, Schnürer A
Biotechnol Biofuels 14 (1) 56 [2021-03-04; online 2021-03-04]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comparative analysis of targeted next-generation sequencing panels for the detection of gene mutations in chronic lymphocytic leukemia: an ERIC multi-center study.
Sutton L, Ljungström V, Enjuanes A, ..., Stamatopoulos K, Rosenquist R
Haematologica 106 (3) 682-691 [2021-03-01; online 2021-03-01]
Clinical Genomics Uppsala [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole-genome analyses provide no evidence for dog introgression in Fennoscandian wolf populations.
Smeds L, Aspi J, Berglund J, ..., Tirronen K, Ellegren H
Evol Appl 14 (3) 721-734 [2021-03-00; online 2020-11-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Abundantly expressed class of noncoding RNAs conserved through the multicellular evolution of dictyostelid social amoebas.
Kjellin J, Avesson L, Reimegård J, ..., Schaap P, Söderbom F
Genome Res. 31 (3) 436-447 [2021-03-00; online 2021-01-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Combined removal of organic micropollutants and ammonium in reactive barriers developed for managed aquifer recharge.
Modrzyński JJ, Aamand J, Wittorf L, ..., Hallin S, Albers CN
Water Res. 190 (-) 116669 [2021-02-15; online 2020-11-25]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A novel canine reference genome resolves genomic architecture and uncovers transcript complexity.
Wang C, Wallerman O, Arendt ML, ..., Meadows JRS, Lindblad-Toh K
Commun Biol 4 (1) 185 [2021-02-10; online 2021-02-10]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic characterization of relapsed acute myeloid leukemia reveals novel putative therapeutic targets.
Stratmann S, Yones SA, Mayrhofer M, ..., Cavelier L, Holmfeldt L
Blood Adv 5 (3) 900-912 [2021-02-09; online 2021-02-10]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics Uppsala [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Taste perception and lifestyle: insights from phenotype and genome data among Africans and Asians.
Sjöstrand AE, Sjödin P, Hegay T, ..., Heyer E, Jakobsson M
Eur. J. Hum. Genet. 29 (2) 325-337 [2021-02-00; online 2020-10-01]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Small-scale population divergence is driven by local larval environment in a temperate amphibian.
Rödin-Mörch P, Palejowski H, Cortazar-Chinarro M, ..., Höglund J, Laurila A
Heredity (Edinb) 126 (2) 279-292 [2021-02-00; online 2020-09-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Single nucleus transcriptomics data integration recapitulates the major cell types in human liver.
Diamanti K, Inda Díaz JS, Raine A, ..., Wadelius C, Cavalli M
Hepatol Res 51 (2) 233-238 [2021-02-00; online 2020-11-28]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Role of H1 and DNA methylation in selective regulation of transposable elements during heat stress.
Liu S, de Jonge J, Trejo-Arellano MS, ..., Köhler C, Hennig L
New Phytol. 229 (4) 2238-2250 [2021-02-00; online 2020-11-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Hybrid seed incompatibility in Capsella is connected to chromatin condensation defects in the endosperm.
Dziasek K, Simon L, Lafon-Placette C, ..., Slotte T, Köhler C
PLoS Genet. 17 (2) e1009370 [2021-02-00; online 2021-02-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide single nucleotide polymorphism markers reveal population structure and dispersal direction of an expanding nuisance algal bloom species.
Rengefors K, Gollnisch R, Sassenhagen I, ..., Bassham S, Ahrén D
Mol. Ecol. 30 (4) 912-925 [2021-02-00; online 2021-01-20]
Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comparative genomics highlights the importance of drug efflux transporters during evolution of mycoparasitism in Clonostachys subgenus Bionectria (Fungi, Ascomycota, Hypocreales).
Broberg M, Dubey M, Iqbal M, ..., Brandström Durling M, Karlsson M
Evol Appl 14 (2) 476-497 [2021-02-00; online 2020-09-28]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Divergence and Remarkable Diversity of the Y Chromosome in Guppies.
Almeida P, Sandkam BA, Morris J, ..., Breden F, Mank JE
Mol. Biol. Evol. 38 (2) 619-633 [2021-01-23; online 2020-10-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association study and pathway analysis identify NTRK2 as a novel candidate gene for litter size in sheep.
Esmaeili-Fard SM, Gholizadeh M, Hafezian SH, Abdollahi-Arpanahi R
PLoS ONE 16 (1) e0244408 [2021-01-22; online 2021-01-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The overlap of genetic susceptibility to schizophrenia and cardiometabolic disease can be used to identify metabolically different groups of individuals.
Strawbridge RJ, Johnston KJA, Bailey MES, ..., Sennblad B, Smith DJ
Sci Rep 11 (1) 632 [2021-01-12; online 2021-01-12]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Temporal changes in DNA methylation and RNA expression in a small song bird: within- and between-tissue comparisons.
Lindner M, Verhagen I, Viitaniemi HM, ..., Husby A, van Oers K
BMC Genomics 22 (1) 36 [2021-01-07; online 2021-01-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.
Lagou V, Mägi R, Hottenga JJ, ..., Prokopenko I, Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC)
Nat Commun 12 (1) 24 [2021-01-05; online 2021-01-05]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Post-treatment of dewatered digested sewage sludge by thermophilic high-solid digestion for pasteurization with positive energy output.
Nordell E, Moestedt J, Österman J, ..., Sun L, Schnürer A
Waste Management 119 (-) 11-21 [2021-01-01; online 2020-10-05]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications.
Rydzanicz M, Olszewski P, Kedra D, ..., Dumanski JP, Płoski R
Mol Genet Genomic Med 9 (1) e1526 [2021-01-00; online 2020-12-14]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Urbanization is associated with modifications in DNA methylation in a small passerine bird.
Watson H, Powell D, Salmón P, Jacobs A, Isaksson C
Evol Appl 14 (1) 85-98 [2021-01-00; online 2020-11-13]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.
Munn-Chernoff MA, Johnson EC, Chou YL, ..., Bulik CM, Agrawal A
Addict Biol 26 (1) e12880 [2021-01-00; online 2020-02-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.
Sandling JK, Pucholt P, Hultin Rosenberg L, ..., Lindblad-Toh K, Rönnblom L
Ann. Rheum. Dis. 80 (1) 109-117 [2021-01-00; online 2020-10-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Epigenome-wide cross-tissue correlation of human bone and blood DNA methylation - can blood be used as a surrogate for bone?
Ebrahimi P, Luthman H, McGuigan FE, Akesson KE
Epigenetics 16 (1) 92-105 [2021-01-00; online 2020-07-21]
Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2020

PubMed DOI Crossref
Defining eligible patients for allele-selective chemotherapies targeting NAT2 in colorectal cancer.
Rendo V, Kundu S, Rameika N, ..., Stoimenov I, Sjöblom T
Sci Rep 10 (1) 22436 [2020-12-31; online 2020-12-31]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
You Had Me at “MAGIC”!: Four Barley MAGIC Populations Reveal Novel Resistance QTL for Powdery Mildew
Novakazi F, Krusell L, Jensen J, ..., Bengtsson T, None
Genes 11 (12) 1512 [2020-12-18; online 2020-12-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Hodgkin Lymphoma Monozygotic Triplets Reveal Divergences in DNA Methylation Signatures.
Xia C, Olsen TK, Zirakzadeh AA, ..., Björkholm M, Strååt K
Front Oncol 10 (-) 598872 [2020-12-09; online 2020-12-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
BMP signaling is a therapeutic target in ovarian cancer.
Fukuda T, Fukuda R, Tanabe R, ..., Miyazono K, Heldin CH
Cell Death Discov 6 (1) 139 [2020-12-05; online 2020-12-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A shotgun metagenomic investigation of the microbiota of udder cleft dermatitis in comparison to healthy skin in dairy cows.
Ekman L, Bagge E, Nyman A, ..., Pringle M, Segerman B
PLoS ONE 15 (12) e0242880 [2020-12-02; online 2020-12-02]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Tissue-specific patterns of regulatory changes underlying gene expression differences among Ficedula flycatchers and their naturally occurring F1 hybrids.
Mugal CF, Wang M, Backström N, ..., Qvarnström A, Ellegren H
Genome Res. 30 (12) 1727-1739 [2020-12-00; online 2020-11-03]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Morphological characters and SNP markers suggest hybridization and introgression in sympatric populations of the pleurocarpous mosses Homalothecium lutescens and H. sericeum
Sawangproh W, Lang AS, Hedenäs L, Cronberg N
Org Divers Evol 20 (4) 619-637 [2020-12-00; online 2020-09-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association study of angioedema induced by angiotensin-converting enzyme inhibitor and angiotensin receptor blocker treatment.
Rasmussen ER, Hallberg P, Baranova EV, ..., Palmer CNA, Wadelius M
Pharmacogenomics J. 20 (6) 770-783 [2020-12-00; online 2020-02-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity.
Yaghootkar H, Zhang Y, Spracklen CN, ..., Loos RJF, Kilpeläinen TO
Diabetes 69 (12) 2806-2818 [2020-12-00; online 2020-09-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus.
van Zuydam NR, Ladenvall C, Voight BF, ..., Palmer CNA, SUMMIT Steering Committee; CARDIOGRAMplusC4D Steering Committee*
Circ Genom Precis Med 13 (6) e002769 [2020-12-00; online 2020-08-13]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Exome Sequencing Reveals Common and Rare Variants in F5 Associated With ACE Inhibitor and Angiotensin Receptor Blocker-Induced Angioedema.
Maroteau C, Siddiqui MK, Veluchamy A, ..., Palmer CNA, PREDICTION-ADR
Clin. Pharmacol. Ther. 108 (6) 1195-1202 [2020-12-00; online 2020-07-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.
Surendran P, Feofanova EV, Lahrouchi N, ..., Munroe PB, Howson JMM
Nat. Genet. 52 (12) 1314-1332 [2020-12-00; online 2020-11-23]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A genome-wide association study revealed five SNPs affecting 8-month weight in sheep.
Pasandideh M, Gholizadeh M, Rahimi-Mianji G
Anim Genet 51 (6) 973-976 [2020-12-00; online 2020-09-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Association between Aquatic Micropollutant Dissipation and River Sediment Bacterial Communities.
Coll C, Bier R, Li Z, ..., Gorokhova E, Sobek A
Environ. Sci. Technol. 54 (22) 14380-14392 [2020-11-17; online 2020-10-26]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Evaluation of the efficiency of genomic versus pedigree predictions for growth and wood quality traits in Scots pine.
Calleja-Rodriguez A, Pan J, Funda T, ..., Abrahamsson S, Wu HX
BMC Genomics 21 (1) 796 [2020-11-16; online 2020-11-16]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Association of aberrant ASNS imprinting with asparaginase sensitivity and chromosomal abnormality in childhood BCP-ALL.
Watanabe A, Miyake K, Nordlund J, ..., Sugita K, Inukai T
Blood 136 (20) 2319-2333 [2020-11-12; online 2020-06-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort.
Mathioudaki A, Ljungström V, Melin M, ..., Sjöblom T, Lindblad-Toh K
Sci Rep 10 (1) 19304 [2020-11-09; online 2020-11-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification of candidate genetic variants and altered protein expression in neural stem and mature neural cells support altered microtubule function to be an essential component in bipolar disorder.
Truvé K, Parris TZ, Vizlin-Hodzic D, ..., Ågren H, Funa K
Transl Psychiatry 10 (1) 390 [2020-11-09; online 2020-11-09]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Draft Genome Assembly of the Freshwater Apex Predator Wels Catfish (Silurus glanis) Using Linked-Read Sequencing.
Ozerov MY, Flajšhans M, Noreikiene K, Vasemägi A, Gross R
G3 (Bethesda) 10 (11) 3897-3906 [2020-11-05; online 2020-11-05]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Putative Epigenetic Biomarkers of Stress in Red Blood Cells of Chickens Reared Across Different Biomes.
Pértille F, Ibelli AMG, Sharif ME, ..., Guerrero-Bosagna C, Coutinho LL
Front Genet 11 (-) 508809 [2020-11-02; online 2020-11-02]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Pericyte dysfunction due to Shb gene deficiency increases B16F10 melanoma lung metastasis.
He Q, Li X, He L, ..., Betsholtz C, Welsh M
Int. J. Cancer 147 (9) 2634-2644 [2020-11-01; online 2020-05-30]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Angiotensin-converting enzyme 2 (ACE2) levels in relation to risk factors for COVID-19 in two large cohorts of patients with atrial fibrillation.
Wallentin L, Lindbäck J, Eriksson N, ..., Oldgren J, Siegbahn A
Eur. Heart J. 41 (41) 4037-4046 [2020-11-01; online 2020-09-29]
Affinity Proteomics Uppsala [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The proliferative history shapes the DNA methylome of B-cell tumors and predicts clinical outcome.
Duran-Ferrer M, Clot G, Nadeu F, ..., Campo E, Martín-Subero JI
Nat Cancer 1 (11) 1066-1081 [2020-11-00; online 2020-11-02]
NGI SNP genotyping [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Sahelian pastoralism from the perspective of variants associated with lactase persistence.
Priehodová E, Austerlitz F, Čížková M, ..., Schlebusch CM, Černý V
Am. J. Phys. Anthropol. 173 (3) 423-436 [2020-11-00; online 2020-08-19]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Optimized metabarcoding with Pacific biosciences enables semi-quantitative analysis of fungal communities.
Castaño C, Berlin A, Brandström Durling M, ..., Clemmensen KE, Olson Å
New Phytol. 228 (3) - [2020-11-00; online 2020-07-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder.
Ramos J, Proven M, Halvardson J, ..., Thuresson AC, Fu D
RNA 26 (11) 1654-1666 [2020-11-00; online 2020-08-06]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A family-based genome-wide association study of recurrent aphthous stomatitis.
Bankvall M, Östman S, Jontell M, Torinsson Naluai Å
Oral Dis 26 (8) 1696-1705 [2020-11-00; online 2020-07-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A comparative genomics multitool for scientific discovery and conservation.
Zoonomia Consortium
Nature 587 (7833) 240-245 [2020-11-00; online 2020-11-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Intra-Individual Behavioural Variability: A Trait under Genetic Control.
Henriksen R, Höglund A, Fogelholm J, ..., Dingemanse NJ, Wright D
Int J Mol Sci 21 (21) 8069 [2020-10-29; online 2020-10-29]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DNA methylation in canine brains is related to domestication and dog-breed formation.
Sundman AS, Pértille F, Lehmann Coutinho L, ..., Guerrero-Bosagna C, Jensen P
PLoS ONE 15 (10) e0240787 [2020-10-29; online 2020-10-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Microbiomes in a manganese oxide producing ecosystem in the Ytterby mine, Sweden: impact on metal mobility.
Sjöberg S, Stairs CW, Allard B, ..., Ettema TJG, Dupraz C
FEMS Microbiol. Ecol. 96 (11) - [2020-10-28; online 2020-08-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Polycomb Repressive Complex 2-mediated histone modification H3K27me3 is associated with embryogenic potential in Norway spruce.
Nakamura M, Batista RA, Köhler C, Hennig L
J. Exp. Bot. 71 (20) 6366-6378 [2020-10-22; online 2020-09-08]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic Variants Associated with Non-Alcoholic Fatty Liver Disease Do Not Associate with Measures of Sub-Clinical Atherosclerosis: Results from the IMPROVE Study.
Castaldo L, Laguzzi F, Strawbridge RJ, ..., Mälarstig A, Gigante B
Genes 11 (11) 1243 [2020-10-22; online 2020-10-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Khoe-San Genomes Reveal Unique Variation and Confirm the Deepest Population Divergence in Homo sapiens.
Schlebusch CM, Sjödin P, Breton G, ..., Soodyall H, Jakobsson M
Mol. Biol. Evol. 37 (10) 2944-2954 [2020-10-01; online 2020-07-23]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Brain Transcriptomics of Wild and Domestic Rabbits Suggests That Changes in Dopamine Signaling and Ciliary Function Contributed to Evolution of Tameness.
Sato DX, Rafati N, Ring H, ..., Carneiro M, Andersson L
Genome Biol Evol 12 (10) 1918-1928 [2020-10-01; online 2020-08-25]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.
Folkersen L, Gustafsson S, Wang Q, ..., Ingelsson E, Mälarstig A
Nat Metab 2 (10) 1135-1148 [2020-10-00; online 2020-10-16]
Affinity Proteomics Uppsala [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling.
Lundtoft C, Pucholt P, Imgenberg-Kreuz J, ..., Rönnblom L, Hagberg N
PLoS Genet. 16 (10) e1009199 [2020-10-00; online 2020-10-26]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Toll-like receptors revisited; a possible role for TLR1 in lupus nephritis.
Yavuz S, Bianchi M, Kozyrev S, ..., Lindblad-Toh K, Rönnblom L
Ann. Rheum. Dis. 80 (3) 404-406 [2020-09-29; online 2020-09-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Streamlined and Abundant Bacterioplankton Thrive in Functional Cohorts.
Mondav R, Bertilsson S, Buck M, ..., Lindström ES, Garcia SL
mSystems 5 (5) - [2020-09-29; online 2020-09-29]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Diversity and Abundance of Microbial Communities in UASB Reactors during Methane Production from Hydrolyzed Wheat Straw and Lucerne.
Liu T, Schnürer A, Björkmalm J, Willquist K, Kreuger E
Microorganisms 8 (9) 1394 [2020-09-11; online 2020-09-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A whole-genome sequenced control population in northern Sweden reveals subregional genetic differences.
Svensson D, Rentoft M, Dahlin AM, ..., Trygg J, Johansson E
PLoS ONE 15 (9) e0237721 [2020-09-11; online 2020-09-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
River biofilms adapted to anthropogenic disturbances are more resistant to WWTP inputs.
Freixa A, Perujo N, Langenheder S, Romaní AM
FEMS Microbiol. Ecol. 96 (9) - [2020-09-01; online 2020-08-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic comorbidity between major depression and cardio-metabolic traits, stratified by age at onset of major depression.
Hagenaars SP, Coleman JRI, Choi SW, ..., Breen G, Lewis CM
Am. J. Med. Genet. B Neuropsychiatr. Genet. 183 (6) 309-330 [2020-09-00; online 2020-07-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
High Cysteine Membrane Proteins (HCMPs) Are Up-Regulated During Giardia-Host Cell Interactions.
Peirasmaki D, Ma'ayeh SY, Xu F, ..., Liu J, Svärd SG
Front Genet 11 (-) 913 [2020-08-18; online 2020-08-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Association of Established Blood Pressure Loci With 10-Year Change in Blood Pressure and Their Ability to Predict Incident Hypertension.
Poveda A, Atabaki-Pasdar N, Ahmad S, ..., Renström F, Franks PW
J Am Heart Assoc 9 (16) e014513 [2020-08-18; online 2020-08-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Association of Factor V Leiden With Subsequent Atherothrombotic Events: A GENIUS-CHD Study of Individual Participant Data.
Mahmoodi BK, Tragante V, Kleber ME, ..., Asselbergs FW, Patel RS
Circulation 142 (6) 546-555 [2020-08-11; online 2020-07-13]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The importance of the ZBED6-IGF2 axis for metabolic regulation in mouse myoblast cells.
Younis S, Naboulsi R, Wang X, ..., Welsh N, Andersson L
FASEB J. 34 (8) 10250-10266 [2020-08-00; online 2020-06-19]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The Neolithic Pitted Ware culture foragers were culturally but not genetically influenced by the Battle Axe culture herders.
Coutinho A, Günther T, Munters AR, ..., Malmström H, Jakobsson M
Am. J. Phys. Anthropol. 172 (4) 638-649 [2020-08-00; online 2020-06-04]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
SWEDEGENE-a Swedish nation-wide DNA sample collection for pharmacogenomic studies of serious adverse drug reactions.
Hallberg P, Yue QY, Eliasson E, ..., Ås J, Wadelius M
Pharmacogenomics J. 20 (4) 579-585 [2020-08-00; online 2020-01-17]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Recent introgression between Taiga Bean Goose and Tundra Bean Goose results in a largely homogeneous landscape of genetic differentiation.
Ottenburghs J, Honka J, Müskens GJDM, Ellegren H
Heredity (Edinb) 125 (1-2) 73-84 [2020-08-00; online 2020-05-26]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Joint impact of common risk factors on incident dementia: A cohort study of the Swedish Twin Registry.
Tomata Y, Li X, Karlsson IK, ..., Pedersen NL, Hägg S
J. Intern. Med. 288 (2) 234-247 [2020-08-00; online 2020-05-03]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Determinants of genetic variation across eco-evolutionary scales in pinnipeds.
Peart CR, Tusso S, Pophaly SD, ..., Shafer ABA, Wolf JBW
Nat Ecol Evol 4 (8) 1095-1104 [2020-08-00; online 2020-06-08]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Archaea in boreal Swedish lakes are diverse, dominated by Woesearchaeota and follow deterministic community assembly.
Juottonen H, Fontaine L, Wurzbacher C, ..., Peura S, Eiler A
Environ. Microbiol. 22 (8) 3158-3171 [2020-08-00; online 2020-06-03]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A decade of epigenetic change in aging twins: Genetic and environmental contributions to longitudinal DNA methylation.
Reynolds CA, Tan Q, Munoz E, ..., Hägg S, Pedersen NL
Aging Cell 19 (8) e13197 [2020-08-00; online 2020-07-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The genetic regulation of size variation in the transcriptome of the cerebrum in the chicken and its role in domestication and brain size evolution.
Höglund A, Strempfl K, Fogelholm J, Wright D, Henriksen R
BMC Genomics 21 (1) 518 [2020-07-29; online 2020-07-29]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Combining transcriptomics and genetic linkage based information to identify candidate genes associated with Heterobasidion-resistance in Norway spruce.
Chaudhary R, Lundén K, Dalman K, ..., Stenlid J, Elfstrand M
Sci Rep 10 (1) 12711 [2020-07-29; online 2020-07-29]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Translating GWAS-identified loci for cardiac rhythm and rate using an in vivo image- and CRISPR/Cas9-based approach
von der Heyde B, Emmanouilidou A, Mazzaferro E, ..., Brooke HL, den Hoed M
Sci Rep 10 (1) 11831 [2020-07-16; online 2020-07-16]
BioImage Informatics [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Genome Engineering Zebrafish [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptional responses in Parascaris univalens after in vitro exposure to ivermectin, pyrantel citrate and thiabendazole.
Martin F, Dube F, Karlsson Lindsjö O, ..., Bergström TF, Tydén E
Parasit Vectors 13 (1) 342 [2020-07-09; online 2020-07-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Disturbance history can increase functional stability in the face of both repeated disturbances of the same type and novel disturbances.
Renes SE, Sjöstedt J, Fetzer I, Langenheder S
Sci Rep 10 (1) 11333 [2020-07-09; online 2020-07-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Discovery and population genomics of structural variation in a songbird genus.
Weissensteiner MH, Bunikis I, Catalán A, ..., Warmuth VM, Wolf JBW
Nat Commun 11 (1) 3403 [2020-07-07; online 2020-07-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
meQTL and ncRNA functional analyses of 102 GWAS-SNPs associated with depression implicate HACE1 and SHANK2 genes.
Ciuculete DM, Voisin S, Kular L, ..., Mwinyi J, Schiöth HB
Clin Epigenetics 12 (1) 99 [2020-07-02; online 2020-07-02]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Y-Chromosome Variation in Southern African Khoe-San Populations Based on Whole-Genome Sequences.
Naidoo T, Xu J, Vicente M, ..., Jakobsson M, Schlebusch CM
Genome Biol Evol 12 (7) 1031-1039 [2020-07-01; online 2020-07-23]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic Associations Between Childhood Psychopathology and Adult Depression and Associated Traits in 42 998 Individuals: A Meta-analysis.
Akingbuwa WA, Hammerschlag AR, Jami ES, ..., Middeldorp CM, Bipolar Disorder and Major Depressive Disorder Working Groups of the Psychiatric Genomics Consortium
JAMA Psychiatry 77 (7) 715-728 [2020-07-01; online 2020-04-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptomes from German shepherd dogs reveal differences in immune activity between atopic dermatitis affected and control skin.
Tengvall K, Bergvall K, Olsson M, ..., Lindblad-Toh K, Andersson G
Immunogenetics 72 (5) 315-323 [2020-07-00; online 2020-06-18]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Pre- and postnatal Lactobacillus reuteri treatment alters DNA methylation of infant T helper cells.
Forsberg A, Huoman J, Söderholm S, ..., Gustafsson M, Jenmalm MC
Pediatr Allergy Immunol 31 (5) 544-553 [2020-07-00; online 2020-04-03]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Growth-Inhibitory Activity of Bone Morphogenetic Protein 4 in Human Glioblastoma Cell Lines Is Heterogeneous and Dependent on Reduced SOX2 Expression.
Dalmo E, Johansson P, Niklasson M, ..., Nelander S, Westermark B
Mol Cancer Res 18 (7) 981-991 [2020-07-00; online 2020-03-31]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Female-biased gene flow between two species of Darwin's finches.
Lamichhaney S, Han F, Webster MT, ..., Grant PR, Andersson L
Nat Ecol Evol 4 (7) 979-986 [2020-07-00; online 2020-05-04]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome assembly of the basket willow, Salix viminalis, reveals earliest stages of sex chromosome expansion.
Almeida P, Proux-Wera E, Churcher A, ..., Berlin S, Mank JE
BMC Biol. 18 (1) 78 [2020-06-30; online 2020-06-30]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
An efficient single-cell transcriptomics workflow for microbial eukaryotes benchmarked on Giardia intestinalis cells.
Onsbring H, Tice AK, Barton BT, Brown MW, Ettema TJG
BMC Genomics 21 (1) 448 [2020-06-29; online 2020-06-29]
Microbial Single Cell Genomics [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants.
Klar J, Engstrand-Lilja H, Maqbool K, ..., Feuk L, Dahl N
BMC Med Genomics 13 (1) 85 [2020-06-26; online 2020-06-26]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Removal of H2Aub1 by ubiquitin-specific proteases 12 and 13 is required for stable Polycomb-mediated gene repression in Arabidopsis.
Kralemann LEM, Liu S, Trejo-Arellano MS, ..., Köhler C, Hennig L
Genome Biol. 21 (1) 144 [2020-06-16; online 2020-06-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Illuminating Genetic Mysteries of the Dead Sea Scrolls.
Anava S, Neuhof M, Gingold H, ..., Jakobsson M, Rechavi O
Cell 181 (6) 1218-1231.e27 [2020-06-11; online 2020-06-02]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes.
Sakthikumar S, Roy A, Haseeb L, ..., Lindblad-Toh K, Forsberg-Nilsson K
Genome Biol. 21 (1) 127 [2020-06-09; online 2020-06-09]
Bioinformatics Long-term Support WABI [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The regulation and pharmacological modulation of immune complex induced type III IFN production by plasmacytoid dendritic cells.
Hjorton K, Hagberg N, Pucholt P, Eloranta ML, Rönnblom L
Arthritis Res. Ther. 22 (1) 130 [2020-06-05; online 2020-06-05]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
LPS-treatment of bovine endometrial epithelial cells causes differential DNA methylation of genes associated with inflammation and endometrial function.
Jhamat N, Niazi A, Guo Y, ..., Andersson G, Humblot P
BMC Genomics 21 (1) 385 [2020-06-03; online 2020-06-03]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Normal Testosterone but Higher Luteinizing Hormone Plasma Levels in Men With Hypersexual Disorder.
Chatzittofis A, Boström AE, Öberg KG, ..., Arver S, Jokinen J
Sex Med 8 (2) 243-250 [2020-06-00; online 2020-03-12]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mitochondrial genomes from Bronze Age Poland reveal genetic continuity from the Late Neolithic and additional genetic affinities with the steppe populations.
Juras A, Makarowicz P, Chyleński M, ..., Jakobsson M, Dabert M
Am. J. Phys. Anthropol. 172 (2) 176-188 [2020-06-00; online 2020-04-15]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Age-of-onset information helps identify 76 genetic variants associated with allergic disease.
Ferreira MAR, Vonk JM, Baurecht H, ..., Lee Y, Koppelman GH
PLoS Genet. 16 (6) e1008725 [2020-06-00; online 2020-06-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transitions in wheat endosperm metabolism upon transcriptional induction of oil accumulation by oat endosperm WRINKLED1.
Grimberg Å, Wilkinson M, Snell P, ..., Shewry P, Hofvander P
BMC Plant Biol. 20 (1) 235 [2020-05-25; online 2020-05-25]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.
Ntalla I, Weng LC, Cartwright JH, ..., Lubitz SA, Munroe PB
Nat Commun 11 (1) 2542 [2020-05-21; online 2020-05-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Integrative genomics approach identifies molecular features associated with early-stage ovarian carcinoma histotypes.
Engqvist H, Parris TZ, Biermann J, ..., Karlsson P, Helou K
Sci Rep 10 (1) 7946 [2020-05-14; online 2020-05-14]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic and environmental influences on human height from infancy through adulthood at different levels of parental education.
Jelenkovic A, Sund R, Yokoyama Y, ..., Kaprio J, Silventoinen K
Sci Rep 10 (1) 7974 [2020-05-14; online 2020-05-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.
Körberg I, Nowinski D, Bondeson ML, ..., Kölby L, Stattin EL
BMC Med. Genet. 21 (1) 90 [2020-05-05; online 2020-05-05]
Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole-genome sequencing of human remains to enable genealogy DNA database searches - A case report.
Tillmar A, Sjölund P, Lundqvist B, ..., Älgenäs C, Green H
Forensic Sci Int Genet 46 (-) 102233 [2020-05-00; online 2020-01-17]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes.
Nordin J, Ameur A, Lindblad-Toh K, Gyllensten U, Meadows JRS
Eur. J. Hum. Genet. 28 (5) 627-635 [2020-05-00; online 2019-12-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Parentage and relatedness reconstruction in Pinus sylvestris using genotyping-by-sequencing.
Hall D, Zhao W, Wennström U, Andersson Gull B, Wang XR
Heredity (Edinb) 124 (5) 633-646 [2020-05-00; online 2020-03-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease.
Bryois J, Skene NG, Hansen TF, ..., Hjerling-Leffler J, Sullivan PF
Nat. Genet. 52 (5) 482-493 [2020-05-00; online 2020-04-27]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Effect of Cobalt, Nickel, and Selenium/Tungsten Deficiency on Mesophilic Anaerobic Digestion of Chemically Defined Soluble Organic Compounds.
Šafarič L, Yekta SS, Svensson BH, ..., Bastviken D, Björn A
Microorganisms 8 (4) 598 [2020-04-20; online 2020-04-20]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia.
Halvorsen M, Huh R, Oskolkov N, ..., Sullivan PF, Szatkiewicz JP
Nat Commun 11 (1) 1842 [2020-04-15; online 2020-04-15]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service] Systems Biology [Collaborative]
PubMed DOI Crossref
The conifer root rot pathogens Heterobasidion irregulare and Heterobasidion occidentale employ different strategies to infect Norway spruce.
Hu Y, Elfstrand M, Stenlid J, Durling MB, Olson Å
Sci Rep 10 (1) 5884 [2020-04-03; online 2020-04-03]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Polymerase IV Plays a Crucial Role in Pollen Development in Capsella.
Wang Z, Butel N, Santos-González J, ..., Martinez G, Köhler C
Plant Cell 32 (4) 950-966 [2020-04-00; online 2020-01-27]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A Multi-Omics Approach to Liver Diseases: Integration of Single Nuclei Transcriptomics with Proteomics and HiCap Bulk Data in Human Liver.
Cavalli M, Diamanti K, Pan G, ..., Komorowski J, Wadelius C
OMICS 24 (4) 180-194 [2020-04-00; online 2020-03-16]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Antimicrobial peptide and sequence variation along a latitudinal gradient in two anurans.
Cortázar-Chinarro M, Meyer-Lucht Y, Van der Valk T, ..., Laurila A, Höglund J
BMC Genet. 21 (1) 38 [2020-03-30; online 2020-03-30]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Marine Sediments Illuminate Chlamydiae Diversity and Evolution.
Dharamshi JE, Tamarit D, Eme L, ..., Spang A, Ettema TJG
Curr. Biol. 30 (6) 1032-1048.e7 [2020-03-23; online 2020-03-05]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Immune Profiling of Human Gut-Associated Lymphoid Tissue Identifies a Role for Isolated Lymphoid Follicles in Priming of Region-Specific Immunity.
Fenton TM, Jørgensen PB, Niss K, ..., Johansson-Lindbom B, Agace WW
Immunity 52 (3) 557-570.e6 [2020-03-17; online 2020-03-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Effects of acute sleep loss on diurnal plasma dynamics of CNS health biomarkers in young men.
Benedict C, Blennow K, Zetterberg H, Cedernaes J
Neurology 94 (11) e1181-e1189 [2020-03-17; online 2020-01-08]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.
Li C, Stoma S, Lotta LA, ..., Langenberg C, Codd V
Am. J. Hum. Genet. 106 (3) 389-404 [2020-03-05; online 2020-02-27]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptomic resources for evolutionary studies in flat periwinkles and related species.
Marques JP, Sotelo G, Galindo J, ..., Hollander J, Faria R
Sci Data 7 (1) 73 [2020-03-03; online 2020-03-03]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Oral Microbiota Profile Associates with Sugar Intake and Taste Preference Genes.
Esberg A, Haworth S, Hasslöf P, Lif Holgerson P, Johansson I
Nutrients 12 (3) 681 [2020-03-03; online 2020-03-03]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia.
Ivanov Öfverholm I, Zachariadis V, Taylan F, ..., Nordlund J, Barbany G
Leuk. Lymphoma 61 (3) 604-613 [2020-03-00; online 2019-10-22]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals.
Danielsson M, Halvardson J, Davies H, ..., Dumanski JP, Forsberg LA
Eur. J. Hum. Genet. 28 (3) 349-357 [2020-03-00; online 2019-10-25]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus.
Reid S, Alexsson A, Frodlund M, ..., Rönnblom L, Leonard D
Ann. Rheum. Dis. 79 (3) 363-369 [2020-03-00; online 2019-12-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Heritability of Caries Scores, Trajectories, and Disease Subtypes.
Haworth S, Esberg A, Lif Holgerson P, ..., Franks PW, Johansson I
J Dent Res 99 (3) 264-270 [2020-03-00; online 2020-01-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
PCSK6 Is a Key Protease in the Control of Smooth Muscle Cell Function in Vascular Remodeling.
Rykaczewska U, Suur BE, Röhl S, ..., Hedin U, Matic L
Circ. Res. 126 (5) 571-585 [2020-02-28; online 2020-01-02]
Global Proteomics and Proteogenomics [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The Relationship Between Polygenic Risk Scores and Cognition in Schizophrenia.
Richards AL, Pardiñas AF, Frizzati A, ..., O'Donovan MC, Walters JTR
Schizophr Bull 46 (2) 336-344 [2020-02-26; online 2019-06-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Patterns of African and Asian admixture in the Afrikaner population of South Africa.
Hollfelder N, Erasmus JC, Hammaren R, ..., Greeff JM, Schlebusch CM
BMC Biol. 18 (1) 16 [2020-02-24; online 2020-02-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
rs953413 Regulates Polyunsaturated Fatty Acid Metabolism by Modulating ELOVL2 Expression.
Pan G, Cavalli M, Carlsson B, ..., Kumar C, Wadelius C
iScience 23 (2) 100808 [2020-02-21; online 2020-01-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Dominance of Mating Type A1 and Indication of Epigenetic Effects During Early Stages of Mating in Phytophthora infestans.
Tzelepis G, Hodén KP, Fogelqvist J, ..., Vetukuri RR, Dixelius C
Front Microbiol 11 (-) 252 [2020-02-21; online 2020-02-21]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Refined detection and phasing of structural aberrations in pediatric acute lymphoblastic leukemia by linked-read whole-genome sequencing.
Nordlund J, Marincevic-Zuniga Y, Cavelier L, ..., Lönnerholm G, Syvänen AC
Sci Rep 10 (1) 2512 [2020-02-13; online 2020-02-13]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Using null models to compare bacterial and microeukaryotic metacommunity assembly under shifting environmental conditions.
Vass M, Székely AJ, Lindström ES, Langenheder S
Sci Rep 10 (1) 2455 [2020-02-12; online 2020-02-12]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Longitudinal trajectories, correlations and mortality associations of nine biological ages across 20-years follow-up.
Li X, Ploner A, Wang Y, ..., Jylhävä J, Hägg S
Elife 9 (-) - [2020-02-11; online 2020-02-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Clinicopathological features and prognostic value of SOX11 in childhood acute lymphoblastic leukemia.
Grönroos T, Mäkinen A, Laukkanen S, ..., Heinäniemi M, Lohi O
Sci Rep 10 (1) 2043 [2020-02-06; online 2020-02-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Convergent Evolution of Hydrogenosomes from Mitochondria by Gene Transfer and Loss.
Lewis WH, Lind AE, Sendra KM, ..., Ettema TJG, Embley TM
Mol. Biol. Evol. 37 (2) 524-539 [2020-02-01; online 2019-10-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Dynamic architecture and regulatory implications of the miRNA network underlying the response to stress in melon.
Sanz-Carbonell A, Marques MC, Martinez G, Gomez G
RNA Biol 17 (2) 292-308 [2020-02-00; online 2019-12-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Analysis of the genetic variants associated with circulating levels of sgp130. Results from the IMPROVE study.
Bonomi A, Veglia F, Baldassarre D, ..., Gigante B, on behalf of the IMPROVE study group
Genes Immun. 21 (2) 100-108 [2020-02-00; online 2020-01-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Building de novo reference genome assemblies of complex eukaryotic microorganisms from single nuclei.
Montoliu-Nerin M, Sánchez-García M, Bergin C, ..., Johannesson H, Rosling A
Sci Rep 10 (1) 1303 [2020-01-28; online 2020-01-28]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Microbial Single Cell Genomics [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Population Pharmacokinetics and Pharmacogenetics of Ethambutol in Adult Patients Coinfected with Tuberculosis and HIV.
Sundell J, Bienvenu E, Birgersson S, Äbelö A, Ashton M
Antimicrob. Agents Chemother. 64 (2) - [2020-01-27; online 2020-01-27]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
CREBBP and WDR 24 Identified as Candidate Genes for Quantitative Variation in Red-Brown Plumage Colouration in the Chicken.
Fogelholm J, Henriksen R, Höglund A, ..., Jensen P, Wright D
Sci Rep 10 (1) 1161 [2020-01-24; online 2020-01-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptome analysis of fibroblasts from schizophrenia patients reveals differential expression of schizophrenia-related genes.
Etemadikhah M, Niazi A, Wetterberg L, Feuk L
Sci Rep 10 (1) 630 [2020-01-20; online 2020-01-20]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure.
Shah S, Henry A, Roselli C, ..., Swerdlow DI, Lumbers RT
Nat Commun 11 (1) 163 [2020-01-09; online 2020-01-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors.
Laan L, Klar J, Sobol M, ..., Schuster J, Dahl N
Clin Epigenetics 12 (1) 9 [2020-01-08; online 2020-01-08]
Bioinformatics Long-term Support WABI [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The Genome of the Endangered Dryas Monkey Provides New Insights into the Evolutionary History of the Vervets.
van der Valk T, Gonda CM, Silegowa H, ..., Detwiler KM, Guschanski K
Mol. Biol. Evol. 37 (1) 183-194 [2020-01-01; online 2019-09-19]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Discovery of Novel Sequences in 1,000 Swedish Genomes.
Eisfeldt J, Mårtensson G, Ameur A, Nilsson D, Lindstrand A
Mol. Biol. Evol. 37 (1) 18-30 [2020-01-01; online 2019-09-29]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Whole genome sequencing of apparently mutation-negative MEN1 patients.
Backman S, Bajic D, Crona J, ..., Skogseid B, Stålberg P
Eur. J. Endocrinol. 182 (1) 35-45 [2020-01-00; online 2019-10-29]
Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.
Myers L, Blyth M, Moradkhani K, ..., Anderlid BM, Tammimies K
Mol Genet Genomic Med 8 (1) e1013 [2020-01-00; online 2019-11-15]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Protein and DNA methylation-based scores as surrogate markers for interferon system activation in patients with primary Sjögren's syndrome.
Björk A, Richardsdotter Andersson E, Imgenberg-Kreuz J, ..., Nordmark G, Wahren-Herlenius M
RMD Open 6 (1) e000995 [2020-01-00; online 2020-01-21]
Affinity Proteomics Uppsala [Service] Bioinformatics Support for Computational Resources [Service] Clinical Biomarkers [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] PLA and Single Cell Proteomics [Service]
PubMed DOI Crossref
Association of genetic variants related to plasma fatty acids with type 2 diabetes mellitus and glycaemic traits: a Mendelian randomisation study.
Yuan S, Larsson SC
Diabetologia 63 (1) 116-123 [2020-01-00; online 2019-11-05]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2019

PubMed DOI Crossref
Gene transfer across species boundaries in bryophytes: evidence from major life cycle stages in Homalothecium lutescens and H. sericeum.
Sawangproh W, Hedenäs L, Lang AS, Hansson B, Cronberg N
Ann. Bot. - (-) - [2019-12-24; online 2019-12-24]
Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Inoculum Source Determines Acetate and Lactate Production during Anaerobic Digestion of Sewage Sludge and Food Waste.
Moestedt J, Westerholm M, Isaksson S, Schnürer A
Bioengineering 7 (1) 3 [2019-12-23; online 2019-12-23]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic Screening of Plasticity Regulating Nogo-Type Signaling Genes in Migraine.
Smedfors G, Liesecke F, Ran C, ..., Karlsson TE, Carmine Belin A
Brain Sci 10 (1) - [2019-12-20; online 2019-12-20]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Tissue-specific transposon-associated small RNAs in the gymnosperm tree, Norway spruce.
Nakamura M, Köhler C, Hennig L
BMC Genomics 20 (1) 997 [2019-12-19; online 2019-12-19]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Longitudinal DNA methylation changes at MET may alter HGF/c-MET signalling in adolescents at risk for depression.
Ciuculete DM, Voisin S, Kular L, ..., Mwinyi J, Schiöth HB
Epigenetics 15 (6-7) 646-663 [2019-12-19; online 2019-12-19]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comprehensive longitudinal study of epigenetic mutations in aging.
Wang Y, Karlsson R, Jylhävä J, ..., Almgren M, Hägg S
Clin Epigenetics 11 (1) 187 [2019-12-09; online 2019-12-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A Gene-Environment Interaction Between Smoking and Gene polymorphisms Provides a High Risk of Two Subgroups of Sarcoidosis.
Rivera NV, Patasova K, Kullberg S, ..., Grunewald J, Padyukov L
Sci Rep 9 (1) 18633 [2019-12-09; online 2019-12-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenome-wide meta-analysis of blood DNA methylation and its association with subcortical volumes: findings from the ENIGMA Epigenetics Working Group.
Jia T, Chu C, Liu Y, ..., Schumann G, Desrivières S
Mol. Psychiatry - (-) - [2019-12-06; online 2019-12-06]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Replicating associations between DNA methylation and body mass index in a longitudinal sample of older twins.
Karlsson IK, Ericsson M, Wang Y, ..., Reynolds CA, Dahl Aslan AK
Int J Obes (Lond) - (-) - [2019-12-04; online 2019-12-04]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The MADS-box transcription factor PHERES1 controls imprinting in the endosperm by binding to domesticated transposons.
Batista RA, Moreno-Romero J, Qiu Y, ..., Figueiredo DD, Köhler C
Elife 8 (-) - [2019-12-02; online 2019-12-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Population history and genetic adaptation of the Fulani nomads: inferences from genome-wide data and the lactase persistence trait.
Vicente M, Priehodová E, Diallo I, ..., Černý V, Schlebusch CM
BMC Genomics 20 (1) 915 [2019-12-02; online 2019-12-02]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DNA methylation profiles in chronic lymphocytic leukemia patients treated with chemoimmunotherapy.
Tsagiopoulou M, Papakonstantinou N, Moysiadis T, ..., Rosenquist R, Stamatopoulos K
Clin Epigenetics 11 (1) 177 [2019-12-02; online 2019-12-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Arteria: An automation system for a sequencing core facility.
Dahlberg J, Hermansson J, Sturlaugsson S, ..., Hofmann O, Larsson P
Gigascience 8 (12) - [2019-12-01; online 2019-12-12]
Clinical Genomics Uppsala [Technology development] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Transmission dynamics study of tuberculosis isolates with whole genome sequencing in southern Sweden
Alaridah N, Hallbäck ET, Tångrot J, ..., Kaijser B, Godaly G
Sci Rep 9 (1) - [2019-12-00; online 2019-03-20]
Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment.
Schuster J, Laan L, Klar J, ..., Birnir B, Dahl N
Neurobiol. Dis. 132 (-) 104583 [2019-12-00; online 2019-08-21]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The genomic footprint of sexual conflict.
Sayadi A, Martinez Barrio A, Immonen E, ..., Nystedt B, Arnqvist G
Nat Ecol Evol 3 (12) 1725-1730 [2019-12-00; online 2019-11-18]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Studies of liver tissue identify functional gene regulatory elements associated to gene expression, type 2 diabetes, and other metabolic diseases
Cavalli M, Baltzer N, Pan G, ..., Komorowski J, Wadelius C
Hum Genomics 13 (1) 20 [2019-12-00; online 2019-04-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Insight into the biology of Mycobacterium mucogenicum and Mycobacterium neoaurum clade members
Behra PRK, Pettersson BMF, Ramesh M, Dasgupta S, Kirsebom LA
Sci Rep 9 (1) 19259 [2019-12-00; online 2019-12-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Improved power and precision with whole genome sequencing data in genome-wide association studies of inflammatory biomarkers
Höglund J, Rafati N, Rask-Andersen M, ..., Ek WE, Johansson Å
Sci Rep 9 (1) - [2019-12-00; online 2019-11-14]
Bioinformatics Long-term Support WABI [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic Prediction of Serum 25-Hydroxyvitamin D, Calcium, and Parathyroid Hormone Levels in Relation to Development of Type 2 Diabetes: A Mendelian Randomization Study.
Yuan S, Jiang X, Michaëlsson K, Larsson SC
Diabetes Care 42 (12) 2197-2203 [2019-12-00; online 2019-09-23]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenetic signatures associated with imprinted paternally expressed genes in the Arabidopsis endosperm
Moreno-Romero J, Del Toro-De León G, Yadav VK, Santos-González J, Köhler C
Genome Biol. 20 (1) - [2019-12-00; online 2019-02-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The Swedish Twin Registry: Content and Management as a Research Infrastructure.
Zagai U, Lichtenstein P, Pedersen NL, Magnusson PKE
Twin Res Hum Genet - (-) 1-9 [2019-11-21; online 2019-11-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Evidence that genes involved in hedgehog signaling are associated with both bipolar disorder and high BMI.
Pisanu C, Williams MJ, Ciuculete DM, ..., Squassina A, Schiöth HB
Transl Psychiatry 9 (1) 315 [2019-11-21; online 2019-11-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genotype-dependent epigenetic regulation of DLGAP2 in alcohol use and dependence.
Meng W, Sjöholm LK, Kononenko O, ..., Rüegg J, Liu Y
Mol. Psychiatry - (-) - [2019-11-19; online 2019-11-19]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic regulation of gene expression and splicing during a 10-year period of human aging.
Balliu B, Durrant M, Goede O, ..., Ingelsson E, Montgomery SB
Genome Biol. 20 (1) 230 [2019-11-04; online 2019-11-04]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Sulfide level in municipal sludge digesters affects microbial community response to long-chain fatty acid loads.
Shakeri Yekta S, Liu T, Axelsson Bjerg M, ..., Björn A, Schnürer A
Biotechnol Biofuels 12 (1) 259 [2019-11-02; online 2019-11-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Serum Parathyroid Hormone and Risk of Coronary Artery Disease: Exploring Causality Using Mendelian Randomization.
Melhus H, Michaëlsson K, Larsson SC
J. Clin. Endocrinol. Metab. 104 (11) 5595-5600 [2019-11-01; online 2019-07-17]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A genomic inference of the White Plymouth Rock genealogy.
Guo Y, Lillie M, Zan Y, ..., Siegel PB, Carlborg Ö
Poult. Sci. 98 (11) 5272-5280 [2019-11-01; online 2019-07-17]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
In search of causal pathways in diabetes: a study using proteomics and genotyping data from a cross-sectional study.
Beijer K, Nowak C, Sundström J, ..., Fall T, Lind L
Diabetologia 62 (11) 1998-2006 [2019-11-00; online 2019-08-24]
Affinity Proteomics Uppsala [Service] Bioinformatics Support for Computational Resources [Service] Clinical Biomarkers [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] PLA and Single Cell Proteomics [Service]
PubMed DOI Crossref
Genetic predisposition to mosaic Y chromosome loss in blood.
Thompson DJ, Genovese G, Halvardson J, ..., Forsberg LA, Perry JRB
Nature 575 (7784) 652-657 [2019-11-00; online 2019-11-20]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic architecture of subcortical brain structures in 38,851 individuals.
Satizabal CL, Adams HHH, Hibar DP, ..., Seshadri S, Ikram MA
Nat. Genet. 51 (11) 1624-1636 [2019-11-00; online 2019-10-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
EZH2 upregulates the PI3K/AKT pathway through IGF1R and MYC in clinically aggressive chronic lymphocytic leukaemia.
Kosalai ST, Morsy MHA, Papakonstantinou N, ..., Rosenquist R, Kanduri M
Epigenetics 14 (11) 1125-1140 [2019-11-00; online 2019-06-26]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Characterization of Bacterial Communities in Breeding Waters of Anopheles darlingi in Manaus in the Amazon Basin Malaria-Endemic Area.
Nilsson LKJ, de Oliveira MR, Marinotti O, ..., de Souza AQL, Terenius O
Microb. Ecol. 78 (4) 781-791 [2019-11-00; online 2019-04-15]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Associations of autozygosity with a broad range of human phenotypes.