NGI Uppsala (SNP&SEQ Technology Platform)

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SciLifeLab Infrastructure Unit 2013–2019.

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

Started: 2013

Ended: 2019

Year 2023

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
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 - (-) e2191 [2023-05-08; online 2023-05-08]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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]
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]
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
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
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
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 [2023-04-07; online 2023-04-07]
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
Stratified Genetic Analysis Reveals Sex Differences In MPO-ANCA-associated Vasculitis.
Ekman D, Sennblad B, Knight A, ..., Lindblad-Toh K, Dahlqvist J
Rheumatology (Oxford) - (-) - [2023-04-02; online 2023-04-02]
Bioinformatics Long-term Support WABI [Collaborative] 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
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
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
VEGF-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. - (-) - [2023-03-03; online 2023-03-03]
NGI SNP genotyping [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
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
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
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]
NGI Long read [Collaborative] 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
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]
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
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]
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, 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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [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 - (-) - [2022-11-25; online 2022-11-25]
NGI Short read [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 Compute and Storage [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]
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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [Service] Bioinformatics Long-term Support WABI [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 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 Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] 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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] 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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [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
Am. J. Hum. Genet. 109 (8) 1366-1387 [2022-08-04; online 2022-08-06]
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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]
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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]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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 Compute and Storage [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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) - [2022-07-11; online 2022-07-11]
Bioinformatics Compute and Storage [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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 Compute and Storage [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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 Compute and Storage [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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]
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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]
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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 Compute and Storage [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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]
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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 Compute and Storage [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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]
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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]
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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]
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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]
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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 Compute and Storage [Service] Microbial Single Cell Genomics NGI Single cell [Technology development] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
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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]
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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]
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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]
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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]
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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 Compute and Storage [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] Clinical Genomics Uppsala [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [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]
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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]
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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 Compute and Storage [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] 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]
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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]
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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]
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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 Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] 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]
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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 Compute and Storage [Service] Bioinformatics Long-term Support WABI [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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]
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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
The power of genetic diversity in genome-wide association studies of lipids.
Graham SE, Clarke SL, Wu KH, ..., Sun YV, Willer CJ
Nature - (-) - [2021-12-09; online 2021-12-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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]
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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]
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The SEQC2 epigenomics quality control (EpiQC) study.
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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]
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Genetic variants at the RTP4/MASP1 locus are associated with fatigue in Scandinavian patients with primary Sjögren's syndrome.
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NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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Single cell genomics reveals plastid-lacking Picozoa are close relatives of red algae.
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Nat Commun 12 (1) 6651 [2021-11-17; online 2021-11-17]
Bioinformatics Compute and Storage [Service] Microbial Single Cell Genomics [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Comparison of EM-seq and PBAT methylome library methods for low-input DNA.
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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.
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Nat Commun 12 (1) 6618 [2021-11-16; online 2021-11-16]
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Palmdelphin Regulates Nuclear Resilience to Mechanical Stress in the Endothelium.
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Circulation 144 (20) 1629-1645 [2021-11-16; online 2021-10-12]
Global Proteomics and Proteogenomics [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study.
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Sci Data 8 (1) 296 [2021-11-09; online 2021-11-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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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]
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BMP2-induction of FN14 promotes protumorigenic signaling in gynecologic cancer cells.
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Cell. Signal. 87 (-) 110146 [2021-11-00; online 2021-09-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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Frailty and the risk of dementia: is the association explained by shared environmental and genetic factors?
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BMC Med 19 (1) 248 [2021-10-18; online 2021-10-18]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [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 Compute and Storage [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.
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New Phytol. 232 (2) 595-609 [2021-10-00; online 2021-08-19]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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In-depth Phylogenomic Analysis of Arbuscular Mycorrhizal Fungi Based on a Comprehensive Set of de novo Genome Assemblies
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Front. Fungal Biol. 2 (-) - [2021-09-29; online 2021-09-29]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] 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 Compute and Storage [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] 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 Compute and Storage [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 Compute and Storage [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
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 - (-) - [2021-09-03; online 2021-09-03]
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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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]
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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 Compute and Storage [Service] 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
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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] 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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] 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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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]
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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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 R
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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] 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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] 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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 JD, ..., Jahoor A, Bengtsson T
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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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]
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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]
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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.
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Nat. Genet. 52 (12) 1314-1332 [2020-12-00; online 2020-11-23]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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]
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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 Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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 Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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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]
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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]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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]
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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]
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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]
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Khoe-San Genomes Reveal Unique Variation and Confirm the Deepest Population Divergence in Homo sapiens.
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Mol. Biol. Evol. 37 (10) 2944-2954 [2020-10-01; online 2020-07-23]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling.
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PLoS Genet. 16 (10) e1009199 [2020-10-00; online 2020-10-26]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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]
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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]
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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]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] 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]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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]
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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]
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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]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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]
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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 Compute and Storage [Service] Bioinformatics Long-term Support WABI [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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 Compute and Storage [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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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 Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] 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]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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]
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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]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [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]
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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]
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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]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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]
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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]
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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 Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] 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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [Service] 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
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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [Service] 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
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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [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 Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] 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 Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [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]
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The Swedish Twin Registry: Content and Management as a Research Infrastructure.
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Evidence that genes involved in hedgehog signaling are associated with both bipolar disorder and high BMI.
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Transl Psychiatry 9 (1) 315 [2019-11-21; online 2019-11-21]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genotype-dependent epigenetic regulation of DLGAP2 in alcohol use and dependence.
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Genetic regulation of gene expression and splicing during a 10-year period of human aging.
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Sulfide level in municipal sludge digesters affects microbial community response to long-chain fatty acid loads.
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Biotechnol Biofuels 12 (1) 259 [2019-11-02; online 2019-11-02]
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Serum Parathyroid Hormone and Risk of Coronary Artery Disease: Exploring Causality Using Mendelian Randomization.
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A genomic inference of the White Plymouth Rock genealogy.
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In search of causal pathways in diabetes: a study using proteomics and genotyping data from a cross-sectional study.
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Diabetologia 62 (11) 1998-2006 [2019-11-00; online 2019-08-24]
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Genetic predisposition to mosaic Y chromosome loss in blood.
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Nature 575 (7784) 652-657 [2019-11-00; online 2019-11-20]
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Genetic architecture of subcortical brain structures in 38,851 individuals.
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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
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Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Characterization of Bacterial Communities in Breeding Waters of Anopheles darlingi in Manaus in the Amazon Basin Malaria-Endemic Area.
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Microb. Ecol. 78 (4) 781-791 [2019-11-00; online 2019-04-15]
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Associations of autozygosity with a broad range of human phenotypes.
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Nat Commun 10 (1) 4957 [2019-10-31; online 2019-10-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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doepipeline: a systematic approach to optimizing multi-level and multi-step data processing workflows.
Svensson D, Sjögren R, Sundell D, Sjödin A, Trygg J
BMC Bioinformatics 20 (1) 498 [2019-10-15; online 2019-10-15]
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Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches.
Yao S, Kuja-Halkola R, Martin J, ..., Bulik CM, Larsson H
Biol. Psychiatry 86 (8) 577-586 [2019-10-15; online 2019-05-15]
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The genomic ancestry of the Scandinavian Battle Axe Culture people and their relation to the broader Corded Ware horizon.
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Proc. Biol. Sci. 286 (1912) 20191528 [2019-10-09; online 2019-10-09]
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Along the Indian Ocean coast: genomic variation in Mozambique provides new insights into the Bantu expansion.
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Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
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Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions.
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Mol Neurobiol 56 (10) 7113-7127 [2019-10-00; online 2019-04-13]
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Genetic variations in A20 DUB domain provide a genetic link to citrullination and neutrophil extracellular traps in systemic lupus erythematosus.
Odqvist L, Jevnikar Z, Riise R, ..., Collins B, Vaarala O
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Genetic basis and timing of a major mating system shift in Capsella.
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Exploring a Pool-seq-only approach for gaining population genomic insights in nonmodel species.
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Ecol Evol 9 (19) 11448-11463 [2019-10-00; online 2019-09-26]
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Distribution of bacteria between different milk fractions, investigated using culture-dependent methods and molecular-based and fluorescent microscopy approaches.
Sun L, Dicksved J, Priyashantha H, Lundh Å, Johansson M
J Appl Microbiol 127 (4) 1028-1037 [2019-10-00; online 2019-07-22]
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Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6.
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Blood Adv 3 (18) 2722-2731 [2019-09-24; online 2019-09-15]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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IGEMS: The Consortium on Interplay of Genes and Environment Across Multiple Studies - An Update.
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Hypermethylation-associated downregulation of microRNA-4456 in hypersexual disorder with putative influence on oxytocin signalling: A DNA methylation analysis of miRNA genes.
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Phylogenetic microbiota profiling in fecal samples depends on combination of sequencing depth and choice of NGS analysis method.
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PLoS ONE 14 (9) e0222171 [2019-09-17; online 2019-09-17]
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Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.
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Recurrent convergent evolution at amino acid residue 261 in fish rhodopsin.
Hill J, Enbody ED, Pettersson ME, ..., Scheerer P, Andersson L
Proc. Natl. Acad. Sci. U.S.A. 116 (37) 18473-18478 [2019-09-10; online 2019-08-26]
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Evaluation of the Genetic Association Between Adult Obesity and Neuropsychiatric Disease.
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Diabetes - (-) - [2019-09-10; online 2019-09-10]
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Associations of Smoking and Alcohol and Coffee Intake with Fracture and Bone Mineral Density: A Mendelian Randomization Study.
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Genetic Affinities among Southern Africa Hunter-Gatherers and the Impact of Admixing Farmer and Herder Populations.
Vicente M, Jakobsson M, Ebbesen P, Schlebusch CM
Mol. Biol. Evol. 36 (9) 1849-1861 [2019-09-01; online 2019-07-10]
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Ancestral Admixture Is the Main Determinant of Global Biodiversity in Fission Yeast.
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Mol. Biol. Evol. 36 (9) 1975-1989 [2019-09-01; online 2019-06-22]
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Impact of demography on linked selection in two outcrossing Brassicaceae species.
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Ecol Evol 9 (17) 9532-9545 [2019-09-00; online 2019-08-13]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Copy number variation and neuropsychiatric problems in females and males in the general population.
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Am. J. Med. Genet. B Neuropsychiatr. Genet. 180 (6) 341-350 [2019-09-00; online 2018-10-11]
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Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior.
Ganna A, Verweij KJH, Nivard MG, ..., Neale BM, Zietsch BP
Science 365 (6456) - [2019-08-30; online 2019-08-31]
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Neuroticism as a predictor of frailty in old age: a genetically informative approach.
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Psychosom Med - (-) - [2019-08-28; online 2019-08-28]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genotyping by low-coverage whole-genome sequencing in intercross pedigrees from outbred founders: a cost-efficient approach.
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Genet. Sel. Evol. 51 (1) 44 [2019-08-14; online 2019-08-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Lack of gene flow: Narrow and dispersed differentiation islands in a triplet of Leptidea butterfly species
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Mol Ecol 28 (6) 3756-3770 [2019-08-08; online 2019-08-08]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Classical Human Leukocyte Antigen Alleles and C4 Haplotypes Are Not Significantly Associated With Depression.
Glanville KP, Coleman JRI, Hanscombe KB, ..., O'Reilly PF, Lewis CM
Biol. Psychiatry - (-) - [2019-08-05; online 2019-08-05]
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Tobacco smoking induces changes in true DNA methylation, hydroxymethylation and gene expression in bronchoalveolar lavage cells.
Ringh MV, Hagemann-Jensen M, Needhamsen M, ..., Öckinger J, Ekström TJ
EBioMedicine 46 (-) 290-304 [2019-08-00; online 2019-07-12]
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Maintenance of High Genome Integrity over Vegetative Growth in the Fairy-Ring Mushroom Marasmius oreades
Hiltunen M, Grudzinska-Sterno M, Wallerman O, Ryberg M, Johannesson H
Current Biology 29 (16) 2758-2765.e6 [2019-08-00; online 2019-08-00]
Bioinformatics Compute and Storage [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]
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Linkage analysis revealed risk loci on 6p21 and 18p11.2-q11.2 in familial colon and rectal cancer, respectively.
von Holst S, Jiao X, Liu W, ..., Bryant P, Lindblom A
Eur. J. Hum. Genet. 27 (8) 1286-1295 [2019-08-00; online 2019-04-05]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Shared and Unique Patterns of DNA Methylation in Systemic Lupus Erythematosus and Primary Sjögren's Syndrome.
Imgenberg-Kreuz J, Almlöf JC, Leonard D, ..., Sandling JK, Nordmark G
Front Immunol 10 (-) 1686 [2019-07-30; online 2019-07-30]
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Combinations of Spok genes create multiple meiotic drivers in Podospora.
Vogan AA, Ament-Velásquez SL, Granger-Farbos A, ..., Saupe SJ, Johannesson H
Elife 8 (-) - [2019-07-26; online 2019-07-26]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish.
Gudmundsson S, Wilbe M, Filipek-Górniok B, ..., Annerén G, Bondeson M
Sci Rep 9 (1) 10730 [2019-07-24; online 2019-07-24]
BioImage Informatics [Collaborative] Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] Clinical Genomics Uppsala [Collaborative] Genome Engineering Zebrafish [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes.
Wallander K, Liu W, von Holst S, ..., Lindblom A, Lagerstedt-Robinson K
Genes Chromosomes Cancer - (-) - [2019-07-23; online 2019-07-23]
Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Mutation dynamics of CpG dinucleotides during a recent event of vertebrate diversification.
Pértille F, Da Silva VH, Johansson AM, ..., Jensen P, Guerrero-Bosagna C
Epigenetics 14 (7) 685-707 [2019-07-00; online 2019-05-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Epigenome-wide association study of lung function level and its change.
Imboden M, Wielscher M, Rezwan FI, ..., Jarvis D, Probst-Hensch NM
Eur. Respir. J. 54 (1) - [2019-07-00; online 2019-07-04]
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Analyzing DNA methylation patterns in subjects diagnosed with schizophrenia using machine learning methods.
Torabi Moghadam B, Etemadikhah M, Rajkowska G, ..., Feuk L, Carlström EL
J Psychiatr Res 114 (-) 41-47 [2019-07-00; online 2019-04-02]
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Influence of ABO Locus on PFA-100 Collagen-ADP Closure Time Is Not Totally Dependent on the Von Willebrand Factor. Results of a GWAS on GAIT-2 Project Phenotypes.
Pujol-Moix N, Martinez-Perez A, Sabater-Lleal M, ..., Souto JC, Soria JM
Int J Mol Sci 20 (13) - [2019-06-30; online 2019-06-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Allelic Variation in Taste Genes Is Associated with Taste and Diet Preferences and Dental Caries.
Eriksson L, Esberg A, Haworth S, Holgerson PL, Johansson I
Nutrients 11 (7) - [2019-06-29; online 2019-06-29]
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Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing.
Floyd JS, Bloch KM, Brody JA, ..., Alfirevic A, PREDICTION-ADR Consortium and EUDRAGENE
PLoS ONE 14 (6) e0218115 [2019-06-26; online 2019-06-26]
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Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data.
Shungin D, Haworth S, Divaris K, ..., Timpson NJ, Johansson I
Nat Commun 10 (1) 2773 [2019-06-24; online 2019-06-24]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Comparative genomics of Mycobacterium mucogenicum and Mycobacterium neoaurum clade members emphasizing tRNA and non-coding RNA.
Behra PRK, Pettersson BMF, Das S, Dasgupta S, Kirsebom LA
BMC Evol. Biol. 19 (1) 124 [2019-06-18; online 2019-06-18]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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Microbiota data from low biomass milk samples is markedly affected by laboratory and reagent contamination.
Dahlberg J, Sun L, Persson Waller K, ..., Agenäs S, Dicksved J
PLoS ONE 14 (6) e0218257 [2019-06-13; online 2019-06-13]
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The effect of Wolbachia on gene expression in Drosophila paulistorum and its implications for symbiont-induced host speciation.
Baião GC, Schneider DI, Miller WJ, Klasson L
BMC Genomics 20 (1) 465 [2019-06-07; online 2019-06-07]
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Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.
de Vries PS, Brown MR, Bentley AR, ..., Rao DC, Morrison AC
Am. J. Epidemiol. 188 (6) 1033-1054 [2019-06-01; online 2019-01-31]
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Integrated epigenomic and transcriptomic analysis reveals TP63 as a novel player in clinically aggressive chronic lymphocytic leukemia.
Papakonstantinou N, Ntoufa S, Tsagiopoulou M, ..., Rosenquist R, Stamatopoulos K
Int. J. Cancer 144 (11) 2695-2706 [2019-06-01; online 2019-01-15]
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Identification of DNA methylation patterns predisposing for an efficient response to BCG vaccination in healthy BCG-naïve subjects.
Das J, Verma D, Gustafsson M, Lerm M
Epigenetics 14 (6) 589-601 [2019-06-00; online 2019-04-22]
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Genetic basis of amphibian larval development along a latitudinal gradient: Gene diversity, selection and links with phenotypic variation in transcription factor C/EBP-1.
Meyer-Lucht Y, Luquet E, Jóhannesdóttir F, ..., Höglund J, Laurila A
Mol. Ecol. 28 (11) 2786-2801 [2019-06-00; online 2019-06-07]
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Detecting selection signatures in three Iranian sheep breeds.
Manzari Z, Mehrabani-Yeganeh H, Nejati-Javaremi A, Moradi MH, Gholizadeh M
Anim Genet 50 (3) 298-302 [2019-06-00; online 2019-03-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Can markers of biological age predict dependency in old age?
Jylhävä J, Jiang M, Foebel AD, Pedersen NL, Hägg S
Biogerontology 20 (3) 321-329 [2019-06-00; online 2019-01-21]
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A catalog of genetic loci associated with kidney function from analyses of a million individuals.
Wuttke M, Li Y, Li M, ..., Köttgen A, Pattaro C
Nat. Genet. 51 (6) 957-972 [2019-06-00; online 2019-05-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genetic variation in CADM2 as a link between psychological traits and obesity.
Morris J, Bailey MES, Baldassarre D, ..., Smith DJ, Strawbridge RJ
Sci Rep 9 (1) 7339 [2019-05-14; online 2019-05-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Shared Genetic Risk Factors Across Carbamazepine-Induced Hypersensitivity Reactions.
Nicoletti P, Barrett S, McEvoy L, ..., Alfirevic A, Pirmohamed M
Clin. Pharmacol. Ther. - (-) - [2019-05-07; online 2019-05-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetical Genomics of Tonic Immobility in the Chicken.
Fogelholm J, Inkabi S, Höglund A, ..., Henriksen R, Wright D
Genes 10 (5) - [2019-05-07; online 2019-05-07]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
How Linked Selection Shapes the Diversity Landscape in Ficedula Flycatchers
Rettelbach A, Nater A, Ellegren H
Genetics 212 (1) 277-285 [2019-05-01; online 2019-03-14]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Parental Education and Genetics of BMI from Infancy to Old Age: A Pooled Analysis of 29 Twin Cohorts.
Silventoinen K, Jelenkovic A, Latvala A, ..., Sørensen TIA, Kaprio J
Obesity (Silver Spring) 27 (5) 855-865 [2019-05-00; online 2019-04-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined.
Kaleviste E, Saare M, Leahy TR, ..., Peterson P, Kisand K
Eur. J. Immunol. 49 (5) 790-800 [2019-05-00; online 2019-03-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genotype-free estimation of allele frequencies reduces bias and improves demographic inference from RADSeq data.
Warmuth VM, Ellegren H
Mol Ecol Resour 19 (3) 586-596 [2019-05-00; online 2019-04-17]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Footprints of adaptive evolution revealed by whole Z chromosomes haplotypes in flycatchers.
Nadachowska-Brzyska K, Burri R, Ellegren H
Mol. Ecol. 28 (9) 2290-2304 [2019-05-00; online 2019-05-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Exome sequencing in 51 early onset non-familial CRC cases.
Thutkawkorapin J, Lindblom A, Tham E
Mol Genet Genomic Med 7 (5) e605 [2019-05-00; online 2019-02-27]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Asthma and affective traits in adults: a genetically informative study.
Lehto K, Pedersen NL, Almqvist C, Lu Y, Brew BK
Eur. Respir. J. 53 (5) 1802142 [2019-05-00; online 2019-05-30]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
EnsembleCNV: an ensemble machine learning algorithm to identify and genotype copy number variation using SNP array data.
Zhang Z, Cheng H, Hong X, ..., Wang X, Hao K
Nucleic Acids Res. 47 (7) e39 [2019-04-23; online 2019-02-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A Genome-Wide Association Study of Bisphosphonate-Associated Atypical Femoral Fracture.
Kharazmi M, Michaëlsson K, Schilcher J, ..., Wadelius M, Hallberg P
Calcif. Tissue Int. - (-) - [2019-04-20; online 2019-04-20]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
RNA Sequencing Provides Novel Insights into the Transcriptome of Aldosterone Producing Adenomas.
Backman S, Åkerström T, Maharjan R, ..., Hellman P, Björklund P
Sci Rep 9 (1) 6269 [2019-04-18; online 2019-04-18]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure.
Sung YJ, de Las Fuentes L, Winkler TW, ..., Rao DC, Morrison AC
Hum. Mol. Genet. - (-) - [2019-04-10; online 2019-04-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Bidirectional Selection for Body Weight on Standing Genetic Variation in a Chicken Model.
Lillie M, Honaker CF, Siegel PB, Carlborg Ö
G3 (Bethesda) 9 (4) 1165-1173 [2019-04-09; online 2019-04-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
Ferreira MAR, Mathur R, Vonk JM, ..., Koppelman GH, Almqvist C
Am. J. Hum. Genet. 104 (4) 665-684 [2019-04-04; online 2019-03-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Post-glacial colonization routes coincide with a life-history breakpoint along a latitudinal gradient.
Luquet E, Rödin Mörch P, Cortázar-Chinarro M, ..., Höglund J, Laurila A
J. Evol. Biol. 32 (4) 356-368 [2019-04-00; online 2019-02-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mutation patterns in a population-based non-small cell lung cancer cohort and prognostic impact of concomitant mutations in KRAS and TP53 or STK11.
La Fleur L, Falk-Sörqvist E, Smeds P, ..., Moens L, Botling J
Lung Cancer 130 (-) 50-58 [2019-04-00; online 2019-01-09]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
Bentley AR, Sung YJ, Brown MR, ..., Rotimi CN, Cupples LA
Nat. Genet. 51 (4) 636-648 [2019-04-00; online 2019-03-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A geographically matched control population efficiently limits the number of candidate disease-causing variants in an unbiased whole-genome analysis
Rentoft M, Svensson D, Sjödin A, ..., Melin BS, Johansson E
PLoS ONE 14 (3) e0213350 [2019-03-27; online 2019-03-27]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] Systems Biology [Collaborative]
PubMed DOI Crossref
Subsequent Event Risk in Individuals with Established Coronary Heart Disease: Design and Rationale of the GENIUS-CHD Consortium.
Patel R, Tragante V, Schmidt AF, ..., Hingorani AD, Asselbergs FW
Circ Genom Precis Med - (-) - [2019-03-21; online 2019-03-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Association of Chromosome 9p21 with Subsequent Coronary Heart Disease Events: A GENIUS-CHD Study of Individual Participant Data.
Patel RS, Schmidt AF, Tragante V, ..., Hingorani AD, Asselbergs FW
Circ Genom Precis Med - (-) - [2019-03-21; online 2019-03-21]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Extended insight into the Mycobacterium chelonae-abscessus complex through whole genome sequencing of Mycobacterium salmoniphilum outbreak and Mycobacterium salmoniphilum-like strains.
Behra PRK, Das S, Pettersson BMF, ..., Ennis DG, Kirsebom LA
Sci Rep 9 (1) 4603 [2019-03-14; online 2019-03-14]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Oxygen induces the expression of invasion and stress response genes in the anaerobic salmon parasite Spironucleus salmonicida.
Stairs CW, Kokla A, Ástvaldsson Á, ..., Svärd S, Ettema TJG
BMC Biol. 17 (1) 19 [2019-03-01; online 2019-03-01]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Association of Genetic Risk Factors for Psychiatric Disorders and Traits of These Disorders in a Swedish Population Twin Sample.
Taylor MJ, Martin J, Lu Y, ..., Larsson H, Lichtenstein P
JAMA Psychiatry 76 (3) 280-289 [2019-03-01; online 2018-12-20]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.
Thuresson AC, Soussi Zander C, Zhao JJ, ..., Öhrner Y, Feuk L
Clin. Genet. 95 (3) 436-439 [2019-03-00; online 2018-12-07]
Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.
Justice AE, Karaderi T, Highland HM, ..., North KE, Lindgren CM
Nat. Genet. 51 (3) 452-469 [2019-03-00; online 2019-02-18]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
Shrine N, Guyatt AL, Erzurumluoglu AM, ..., Tobin MD, Wain LV
Nat. Genet. 51 (3) 481-493 [2019-03-00; online 2019-02-25]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
Acosta-Herrera M, Kerick M, González-Serna D, ..., Mayes MD, Martin J
Ann. Rheum. Dis. 78 (3) 311-319 [2019-03-00; online 2018-12-20]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.
Jansen IE, Savage JE, Watanabe K, ..., Andreassen OA, Posthuma D
Nat. Genet. 51 (3) 404-413 [2019-03-00; online 2019-01-07]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Estimating the Fitness Effect of Deleterious Mutations During the Two Phases of the Life Cycle: A New Method Applied to the Root-Rot Fungus Heterobasidion parviporum.
Clergeot PH, Rode NO, Glémin S, ..., Ihrmark K, Olson Å
Genetics 211 (3) 963-976 [2019-03-00; online 2018-12-31]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Endosperm-specific transcriptome analysis by applying the INTACT system.
Del Toro-De León G, Köhler C
Plant Reprod 32 (1) 55-61 [2019-03-00; online 2018-12-26]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Asexual reproduction and growth rate: independent and plastic life history traits in Neurospora crassa.
Anderson JL, Nieuwenhuis BPS, Johannesson H
ISME J 13 (3) 780-788 [2019-03-00; online 2018-11-09]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.
Farias FHG, Dahlqvist J, Kozyrev SV, ..., Rönnblom L, Lindblad-Toh K
Eur. J. Hum. Genet. 27 (3) 432-441 [2019-03-00; online 2018-11-20]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology.
de Vries PS, Sabater-Lleal M, Huffman JE, ..., O'Donnell CJ, Smith NL
Blood 133 (9) 967-977 [2019-02-28; online 2019-01-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetics and epigenetics in primary Sjögren's syndrome.
Imgenberg-Kreuz J, Rasmussen A, Sivils K, Nordmark G
Rheumatology (Oxford) - (-) - [2019-02-15; online 2019-02-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Fine-Tuning of Sox17 and Canonical Wnt Coordinates the Permeability Properties of the Blood-Brain Barrier.
Corada M, Orsenigo F, Bhat GP, ..., Magnusson P, Dejana E
Circ. Res. 124 (4) 511-525 [2019-02-15; online 2018-12-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Association of the coronary artery disease risk gene GUCY1A3 with ischaemic events after coronary intervention.
Kessler T, Wolf B, Eriksson N, ..., Kastrati A, Schunkert H
Cardiovasc. Res. - (-) - [2019-02-14; online 2019-02-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Two Basidiomycete Fungi in the Cortex of Wolf Lichens.
Tuovinen V, Ekman S, Thor G, ..., Spribille T, Johannesson H
Curr. Biol. 29 (3) 476-483.e5 [2019-02-04; online 2019-01-17]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The genomics of major psychiatric disorders in a large pedigree from Northern Sweden.
Szatkiewicz J, Crowley JJ, Adolfsson AN, ..., Adolfsson R, Sullivan PF
Transl Psychiatry 9 (1) 60 [2019-02-04; online 2019-02-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Exploring the genetics of trotting racing ability in horses using a unique Nordic horse model.
Velie BD, Lillie M, Fegraeus KJ, ..., Strand E, Lindgren G
BMC Genomics 20 (1) 104 [2019-02-04; online 2019-02-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Introgression of resistance to Rhopalosiphum padi L. from wild barley into cultivated barley facilitated by doubled haploid and molecular marker techniques.
Åhman I, Bengtsson T
Theor. Appl. Genet. - (-) - [2019-02-02; online 2019-02-02]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Disentangling the genetics of lean mass.
Karasik D, Zillikens MC, Hsu YH, ..., Kiel DP, Ohlsson C
Am. J. Clin. Nutr. 109 (2) 276-287 [2019-02-01; online 2019-02-06]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Allele-Specific Methylation of SPDEF: A Novel Moderator of Psychosocial Stress and Substance Abuse.
Tay N, Macare C, Liu Y, ..., Schumann G, IMAGEN Consortium
Am J Psychiatry 176 (2) 146-155 [2019-02-01; online 2018-12-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus.
Almlöf JC, Nystedt S, Leonard D, ..., Sandling JK, Syvänen AC
Hum. Genet. 138 (2) 141-150 [2019-02-00; online 2019-02-01]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Longitudinal changes in the genetic and environmental influences on the epigenetic clocks across old age: Evidence from two twin cohorts.
Jylhävä J, Hjelmborg J, Soerensen M, ..., Pedersen NL, Reynolds CA
EBioMedicine 40 (-) 710-716 [2019-02-00; online 2019-01-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.
Karlsson Linnér R, Biroli P, Kong E, ..., Koellinger PD, Beauchamp JP
Nat. Genet. 51 (2) 245-257 [2019-02-00; online 2019-01-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
CD99 expression is strongly associated with clinical outcome in children with B-cell precursor acute lymphoblastic leukaemia.
Chen D, Camponeschi A, Wu Q, ..., Fogelstrand L, Mårtensson IL
Br. J. Haematol. 184 (3) 418-423 [2019-02-00; online 2018-11-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Pandemrix-induced narcolepsy is associated with genes related to immunity and neuronal survival.
Hallberg P, Smedje H, Eriksson N, ..., Wadelius M, Swedegene
EBioMedicine - (-) - [2019-01-30; online 2019-01-30]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomic regions of speciation and adaptation among three species of grouse.
Kozma R, Rödin-Mörch P, Höglund J
Sci Rep 9 (1) 812 [2019-01-28; online 2019-01-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mercury methylating microbial communities of boreal forest soils.
Xu J, Buck M, Eklöf K, ..., Bertilsson S, Bravo AG
Sci Rep 9 (1) 518 [2019-01-24; online 2019-01-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Carbonic Anhydrase 6 Gene Variation influences Oral Microbiota Composition and Caries Risk in Swedish adolescents.
Esberg A, Haworth S, Brunius C, Lif Holgerson P, Johansson I
Sci Rep 9 (1) 452 [2019-01-24; online 2019-01-24]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.
Kilpeläinen TO, Bentley AR, Noordam R, ..., Rao DC, Loos RJF
Nat Commun 10 (1) 376 [2019-01-22; online 2019-01-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting.
Chauhan G, Adams HHH, Satizabal CL, ..., Debette S, Stroke Genetics Network (SiGN), the International Stroke Genetics Consortium (ISGC), METASTROKE, Alzheimer's Disease Genetics Consortium (ADGC), and the Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium
Neurology - (-) - [2019-01-16; online 2019-01-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptomic and proteomic analyses reveal new insights into the regulation of immune pathways during adenovirus type 2 infection.
Zhao H, Chen M, Valdés A, Lind SB, Pettersson U
BMC Microbiol. 19 (1) 15 [2019-01-14; online 2019-01-14]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Decreased Snow Cover Stimulates Under-Ice Primary Producers but Impairs Methanotrophic Capacity.
Garcia SL, Szekely AJ, Bergvall C, Schattenhofer M, Peura S
mSphere 4 (1) - [2019-01-09; online 2019-01-09]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.
Morris AP, Le TH, Wu H, ..., Humphreys BD, Franceschini N
Nat Commun 10 (1) 29 [2019-01-03; online 2019-01-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Tracking the Epigenetic Clock Across the Human Life Course: A Meta-analysis of Longitudinal Cohort Data.
Marioni RE, Suderman M, Chen BH, ..., Deary IJ, Hägg S
J. Gerontol. A Biol. Sci. Med. Sci. 74 (1) 57-61 [2019-01-01; online 2018-05-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
ZBED6 negatively regulates insulin production, neuronal differentiation, and cell aggregation in MIN6 cells.
Wang X, Jiang L, Wallerman O, ..., Welsh N, Andersson L
FASEB J. 33 (1) 88-100 [2019-01-00; online 2018-06-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mosaic loss of chromosome Y in leukocytes matters.
Forsberg LA, Halvardson J, Rychlicka-Buniowska E, ..., Ingelsson M, Dumanski JP
Nat. Genet. 51 (1) 4-7 [2019-01-00; online 2018-10-31]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic risk for neuroticism predicts emotional health depending on childhood adversity.
Lehto K, Karlsson I, Lundholm C, Pedersen NL
Psychol Med 49 (2) 260-267 [2019-01-00; online 2018-03-26]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits.
Morin A, Madore AM, Kwan T, ..., Pastinen T, Laprise C
Eur. J. Hum. Genet. 27 (1) 90-101 [2019-01-00; online 2018-09-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]

Year 2018

PubMed DOI Crossref
Significantly altered peripheral blood cell DNA methylation profile as a result of immediate effect of metformin use in healthy individuals.
Elbere I, Silamikelis I, Ustinova M, ..., Schiöth HB, Klovins J
Clin Epigenetics 10 (1) 156 [2018-12-13; online 2018-12-13]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders
Walters RK, None , Polimanti R, ..., Edenberg HJ, Agrawal A
Nat Neurosci 21 (12) 1656-1669 [2018-12-00; online 2018-11-26]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The gut microbiome participates in transgenerational inheritance of low-temperature responses in Drosophila melanogaster.
Zare A, Johansson AM, Karlsson E, Delhomme N, Stenberg P
FEBS Lett. 592 (24) 4078-4086 [2018-12-00; online 2018-11-15]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
T-cell transcriptomics from peripheral blood highlights differences between polymyositis and dermatomyositis patients
Houtman M, Ekholm L, Hesselberg E, ..., Lundberg IE, Padyukov L
Arthritis Res. Ther. 20 (1) - [2018-12-00; online 2018-08-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Molecular Investigation of the Ciliate Spirostomum semivirescens, with First Transcriptome and New Geographical Records
Hines HN, Onsbring H, Ettema TJG, Esteban GF
Protist 169 (6) 875-886 [2018-12-00; online 2018-12-00]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Linking FOXO3, NCOA3, and TCF7L2 to Ras pathway phenotypes through a genome-wide forward genetic screen in human colorectal cancer cells
Kundu S, Ali MA, Handin N, ..., Hellström M, Sjöblom T
Genome Med 10 (1) - [2018-12-00; online 2018-01-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Individual Genetic Variation Might Predict Acute Skin Reactions in Women Undergoing Adjuvant Breast Cancer Radiotherapy.
Oliva D, Nilsson M, Strandéus M, ..., Laytragoon-Lewin N, Lewin F
Anticancer Res. 38 (12) 6763-6770 [2018-12-00; online 2018-12-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genomes from uncultivated prokaryotes: a comparison of metagenome-assembled and single-amplified genomes
Alneberg J, Karlsson CMG, Divne AM, ..., Andersson AF, Pinhassi J
Microbiome 6 (1) - [2018-12-00; online 2018-09-28]
Bioinformatics Compute and Storage [Service] Microbial Single Cell Genomics [Collaborative] 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 sequencing and conservation genomics in the Scandinavian wolverine population
Ekblom R, Brechlin B, Persson J, ..., Flagstad Ø, Ellegren H
Conservation Biology 32 (6) 1301-1312 [2018-12-00; online 2018-09-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gene expression correlated with delay in shell formation in larval Pacific oysters (Crassostrea gigas) exposed to experimental ocean acidification provides insights into shell formation mechanisms
De Wit P, Durland E, Ventura A, Langdon CJ
BMC Genomics 19 (1) - [2018-12-00; online 2018-02-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes
Franceschini N, None , Giambartolomei C, ..., Casas JP, O’Donnell CJ
Nat Commun 9 (1) - [2018-12-00; online 2018-12-03]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Effects of predation stress and food ration on perch gut microbiota
Zha Y, Eiler A, Johansson F, Svanbäck R
Microbiome 6 (1) - [2018-12-00; online 2018-02-06]
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Convergent evolution of complex genomic rearrangements in two fungal meiotic drive elements
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Comprehensive analysis of CTNNB1 in adrenocortical carcinomas: Identification of novel mutations and correlation to survival
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Sci Rep 8 (1) 8610 [2018-12-00; online 2018-06-05]
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Comparative omics and feeding manipulations in chicken indicate a shift of the endocrine role of visceral fat towards reproduction
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BMC Genomics 19 (1) - [2018-12-00; online 2018-04-26]
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Analysis of porcine body size variation using re-sequencing data of miniature and large pigs
Reimer C, Rubin CJ, Sharifi AR, ..., Schlather M, Simianer H
BMC Genomics 19 (1) - [2018-12-00; online 2018-09-19]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Out in the Cold: Identification of Genomic Regions Associated With Cold Tolerance in the Biocontrol Fungus Clonostachys rosea Through Genome-Wide Association Mapping.
Broberg M, Dubey M, Sun MH, ..., Brandström Durling M, Karlsson M
Front Microbiol 9 (-) 2844 [2018-11-22; online 2018-11-22]
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Genome-Wide Association Studies of Estimated Fatty Acid Desaturase Activity in Serum and Adipose Tissue in Elderly Individuals: Associations with Insulin Sensitivity
Marklund M, Morris A, Mahajan A, ..., Lind L, Risérus U
Nutrients 10 (11) 1791 [2018-11-17; online 2018-11-17]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Diet-dependent gene expression highlights the importance of Cytochrome P450 in detoxification of algal secondary metabolites in a marine isopod.
De Wit P, Yamada K, Panova M, André C, Johannesson K
Sci Rep 8 (1) 16824 [2018-11-14; online 2018-11-14]
NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Integrative Analysis of Three RNA Sequencing Methods Identifies Mutually Exclusive Exons of MADS-Box Isoforms During Early Bud Development in Picea abies
Akhter S, Kretzschmar WW, Nordal V, ..., Emanuelsson O, Sundström JF
Front Plant Sci 9 (-) - [2018-11-13; online 2018-11-13]
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Computational and Statistical Analysis of Array-Based DNA Methylation Data.
Nordlund J, Bäcklin C, Raine A
Methods Mol. Biol. 1878 (-) 173-191 [2018-11-01; online 2018-11-01]
NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
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Genomes of two archaeal endosymbionts show convergent adaptations to an intracellular lifestyle
Lind AE, Lewis WH, Spang A, ..., Embley TM, Ettema TJG
ISME J 12 (11) 2655-2667 [2018-11-00; online 2018-07-10]
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Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders
Ligthart S, Vaez A, Võsa U, ..., Frayling TM, Slagboom EP
The American Journal of Human Genetics 103 (5) 691-706 [2018-11-00; online 2018-11-00]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.
Mahajan A, Taliun D, Thurner M, ..., Boehnke M, McCarthy MI
Nat. Genet. 50 (11) 1505-1513 [2018-11-00; online 2018-10-08]
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Gene-level associations in suicide attempter families show overrepresentation of synaptic genes and genes differentially expressed in brain development
Sokolowski M, Wasserman J, Wasserman D
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Cigarette smoking affects microRNAs and inflammatory biomarkers in healthy individuals and an association to single nucleotide polymorphisms is indicated
Andersson BÅ, Sayardoust S, Löfgren S, Rutqvist LE, Laytragoon-Lewin N
Biomarkers - (-) 1-17 [2018-10-30; online 2018-10-30]
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Dynamics of a Perturbed Microbial Community during Thermophilic Anaerobic Digestion of Chemically Defined Soluble Organic Compounds
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Microorganisms 6 (4) 105 [2018-10-11; online 2018-10-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data.
Ameur A, Che H, Martin M, ..., Feuk L, Gyllensten U
Genes 9 (10) 486 [2018-10-09; online 2018-10-09]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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Biased Inference of Selection Due to GC-Biased Gene Conversion and the Rate of Protein Evolution in Flycatchers When Accounting for It
Bolívar P, Mugal CF, Rossi M, ..., Dutoit L, Ellegren H
- 35 (10) 2475-2486 [2018-10-01; online 2018-08-02]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Mutation, methylation, and gene expression profiles in dup(1q)-positive pediatric B-cell precursor acute lymphoblastic leukemia.
Gunnarsson R, Dilorenzo S, Lundin-Ström KB, ..., Isaksson A, Johansson B
Leukemia 32 (10) 2117-2125 [2018-10-00; online 2018-03-12]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Genetic architecture of traits associated with reproductive barriers in Silene: Coupling, sex chromosomes and variation.
Liu X, Karrenberg S
Mol. Ecol. 27 (19) 3889-3904 [2018-10-00; online 2018-04-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Ancient genomes suggest the eastern Pontic-Caspian steppe as the source of western Iron Age nomads.
Krzewińska M, Kılınç GM, Juras A, ..., Storå J, Götherström A
Sci Adv 4 (10) eaat4457 [2018-10-00; online 2018-10-03]
Bioinformatics Compute and Storage [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
Interferon-α enhances the IL-12-induced STAT4 activation selectively in carriers of the STAT4 SLE risk allele rs7574865[T].
Hagberg N, Rönnblom L
Ann. Rheum. Dis. - (-) - [2018-09-29; online 2018-09-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Epigenetic influences on aging: a longitudinal genome-wide methylation study in old Swedish twins
Wang Y, Karlsson R, Lampa E, ..., Pedersen NL, Hägg S
Epigenetics - (-) - [2018-09-28; online 2018-09-28]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Methanogens and Iron-Reducing Bacteria: the Overlooked Members of Mercury-Methylating Microbial Communities in Boreal Lakes
Bravo AG, Peura S, Buck M, ..., Björn E, Bertilsson S
Appl Environ Microbiol 84 (23) - [2018-09-21; online 2018-11-15]
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The all-intracellular order Legionellales is unexpectedly diverse, globally distributed and lowly abundant
Graells T, Ishak H, Larsson M, Guy L
FEMS Microbiol. Ecol. - (-) - [2018-09-10; online 2018-09-10]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Neuronal Expression of Opioid Gene is Controlled by Dual Epigenetic and Transcriptional Mechanism in Human Brain.
Bazov I, Sarkisyan D, Kononenko O, ..., Yakovleva T, Bakalkin G
Cereb. Cortex 28 (9) 3129-3142 [2018-09-01; online 2017-10-03]
Bioinformatics Compute and Storage [Service] Fluorescence Tissue Profiling [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Complex Evolutionary History of Translation Elongation Factor 2 and Diphthamide Biosynthesis in Archaea and Parabasalids
Narrowe AB, Spang A, Stairs CW, ..., Miller CS, Ettema TJG
Genome Biol Evol 10 (9) 2380-2393 [2018-09-01; online 2018-08-27]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Sex-biased gene expression, sexual antagonism and levels of genetic diversity in the collared flycatcher (Ficedula albicollis) genome
Dutoit L, Mugal CF, Bolívar P, ..., Gustafsson L, Ellegren H
Mol Ecol 27 (18) 3572-3581 [2018-09-00; online 2018-09-04]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Sequentially acting SOX proteins orchestrate astrocyte‐ and oligodendrocyte‐specific gene expression
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EMBO Rep. - (-) e46635 [2018-08-30; online 2018-08-30]
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Novel Autotrophic Organisms Contribute Significantly to the Internal Carbon Cycling Potential of a Boreal Lake
Peura S, Buck M, Aalto SL, ..., Nykänen H, Eiler A
MBio 9 (4) - [2018-08-14; online 2018-08-14]
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Extensive genomic diversity among Mycobacterium marinum strains revealed by whole genome sequencing
Das S, Pettersson F, Behra PRK, ..., Ennis DG, Kirsebom L
Sci. Rep. 8 (1) - [2018-08-13; online 2018-08-13]
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Clonal relatedness in tumour pairs of breast cancer patients.
Biermann J, Parris TZ, Nemes S, ..., Karlsson P, Helou K
Breast Cancer Res. 20 (1) 96 [2018-08-09; online 2018-08-09]
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PubMed DOI Crossref
A genetic map of ostrich Z chromosome and the role of inversions in avian sex chromosome evolution.
Papoli Yazdi H, Ellegren H
Genome Biol Evol - (-) - [2018-08-07; online 2018-08-07]
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PubMed DOI Crossref
Substrate-Induced Response in Biogas Process Performance and Microbial Community Relates Back to Inoculum Source
Liu T, Sun L, Nordberg Å, Schnürer A
Microorganisms 6 (3) 80 [2018-08-05; online 2018-08-05]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Investigation of viable taxa in the deep terrestrial biosphere suggests high rates of nutrient recycling
Lopez-Fernandez M, Broman E, Turner S, ..., Bertilsson S, Dopson M
FEMS Microbiol. Ecol. 94 (8) - [2018-08-01; online 2018-06-19]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Sex-specific manifestation of genetic risk for attention deficit hyperactivity disorder in the general population.
Martin J, Taylor MJ, Rydell M, ..., Thapar A, Lichtenstein P
J Child Psychol Psychiatry 59 (8) 908-916 [2018-08-00; online 2018-02-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Proteome‐wide analysis of phospho‐regulated PDZ domain interactions
Sundell GN, Arnold R, Ali M, ..., Chi CN, Ivarsson Y
Mol. Syst. Biol. 14 (8) e8129 [2018-08-00; online 2018-08-20]
Drug Discovery and Development (DDD) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Prenatal arsenic exposure is associated with increased plasma IGFBP3 concentrations in 9-year-old children partly via changes in DNA methylation.
Gliga AR, Engström K, Kippler M, ..., Raqib R, Broberg K
Arch. Toxicol. 92 (8) 2487-2500 [2018-08-00; online 2018-06-08]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
Lee JJ, Wedow R, Okbay A, ..., Benjamin DJ, Cesarini D
Nat. Genet. 50 (8) 1112-1121 [2018-08-00; online 2018-07-23]
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Epigenetics in pediatric acute lymphoblastic leukemia.
Nordlund J, Syvänen AC
Semin. Cancer Biol. 51 (-) 129-138 [2018-08-00; online 2017-09-05]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Acute sleep loss results in tissue-specific alterations in genome-wide DNA methylation state and metabolic fuel utilization in humans
Cedernaes J, Schönke M, Westholm JO, ..., Zierath JR, Benedict C
Sci Adv 4 (8) eaar8590 [2018-08-00; online 2018-08-22]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] Swedish Metabolomics Centre (SMC) [Service]
PubMed DOI Crossref
Insights into Avian Incomplete Dosage Compensation: Sex-Biased Gene Expression Coevolves with Sex Chromosome Degeneration in the Common Whitethroat.
Sigeman H, Ponnikas S, Videvall E, ..., Naurin S, Hansson B
Genes 9 (8) 373 [2018-07-26; online 2018-07-26]
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The psoriasis risk allele HLA-Cw0602 shows evidence of association with chronic or recurrent streptococcal tonsillitis.
Haapasalo K, Koskinen LLE, Suvilehto J, ..., Jokiranta TS, Saavalainen P
Infect. Immun. - (-) - [2018-07-23; online 2018-07-23]
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Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia.
Järviaho T, Zachariadis V, Tesi B, ..., Harila-Saari A, Nordgren A
Br. J. Haematol. - (-) - [2018-07-13; online 2018-07-13]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Primary glioblastoma cells for precision medicine: a quantitative portrait of genomic (in)stability during the first 30 passages.
Baskaran S, Mayrhofer M, Kultima HG, ..., Isaksson A, Nelander S
Neuro-oncology 20 (8) 1080-1091 [2018-07-05; online 2018-02-21]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The mycoparasitic fungus Clonostachys rosea responds with both common and specific gene expression during interspecific interactions with fungal prey
Nygren K, Dubey M, Zapparata A, ..., Jensen DF, Karlsson M
Evol Appl 11 (6) 931-949 [2018-07-00; online 2018-03-14]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The STAT4 SLE risk allele rs7574865[T] is associated with increased IL-12-induced IFN-γ production in T cells from patients with SLE.
Hagberg N, Joelsson M, Leonard D, ..., Bryceson YT, Rönnblom L
Ann. Rheum. Dis. 77 (7) 1070-1077 [2018-07-00; online 2018-02-23]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Novel gene variants associated with cardiovascular disease in systemic lupus erythematosus and rheumatoid arthritis.
Leonard D, Svenungsson E, Dahlqvist J, ..., Criswell LA, Rönnblom L
Ann. Rheum. Dis. 77 (7) 1063-1069 [2018-07-00; online 2018-03-07]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.
Savage JE, Jansen PR, Stringer S, ..., Wright MJ, Posthuma D
Nat. Genet. 50 (7) 912-919 [2018-07-00; online 2018-06-25]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The contribution of common genetic risk variants for ADHD to a general factor of childhood psychopathology.
Brikell I, Larsson H, Lu Y, ..., Lichtenstein P, Martin J
Mol. Psychiatry - (-) - [2018-06-22; online 2018-06-22]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
Feitosa MF, Kraja AT, Chasman DI, ..., Province MA, Levy D
PLoS ONE 13 (6) e0198166 [2018-06-18; online 2018-06-18]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Multi-ethnic genome-wide association study for atrial fibrillation.
Roselli C, Chaffin MD, Weng LC, ..., Lunetta KL, Ellinor PT
Nat. Genet. 50 (9) 1225-1233 [2018-06-11; online 2018-06-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Presence of Aedes and Anopheles mosquito larvae is correlated to bacteria found in domestic water-storage containers
Nilsson LKJ, Sharma A, Bhatnagar RK, Bertilsson S, Terenius O
FEMS Microbiol. Ecol. 94 (6) - [2018-06-01; online 2018-03-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Paternally expressed imprinted genes associate with hybridization barriers in Capsella
Lafon-Placette C, Hatorangan MR, Steige KA, ..., Slotte T, Köhler C
NPLANTS 4 (6) 352-357 [2018-06-00; online 2018-05-28]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed
A genome scan for quantitative trait loci affecting average daily gain and Kleiber ratio in Baluchi Sheep.
Pasandideh M, Rahimi-Mianji G, Gholizadeh M
J. Genet. 97 (2) 493-503 [2018-06-00; online 2018-06-23]
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PubMed DOI Crossref
Equilibrative nucleoside transporter 1 gene polymorphisms and clinical outcomes following acute coronary syndromes: findings from the PLATelet inhibition and patient Outcomes (PLATO) study.
Parker WAE, Eriksson N, Becker RC, ..., Storey RF, PLATO Investigators
Platelets - (-) 1-10 [2018-05-31; online 2018-05-31]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden.
Eriksson D, Bianchi M, Landegren N, ..., Rosengren Pielberg G, Kämpe O
Sci Rep 8 (1) 8395 [2018-05-30; online 2018-05-30]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
Davies G, Lam M, Harris SE, ..., Lencz T, Deary IJ
Nat Commun 9 (1) 2098 [2018-05-29; online 2018-05-29]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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A genome-wide association study of IgM antibody against phosphorylcholine: shared genetics and phenotypic relationship to chronic lymphocytic leukemia.
Chen X, Gustafsson S, Whitington T, ..., Frostegård J, Magnusson PKE
Hum. Mol. Genet. 27 (10) 1809-1818 [2018-05-15; online 2018-03-17]
Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Habitual coffee consumption and cognitive function: a Mendelian randomization meta-analysis in up to 415,530 participants.
Zhou A, Taylor AE, Karhunen V, ..., Llewellyn DJ, Hyppönen E
Sci Rep 8 (1) 7526 [2018-05-14; online 2018-05-14]
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Genome-wide association meta-analysis of circulating odd-numbered chain saturated fatty acids: Results from the CHARGE Consortium.
de Oliveira Otto MC, Lemaitre RN, Sun Q, ..., Siscovick DS, Mozaffarian D
PLoS ONE 13 (5) e0196951 [2018-05-08; online 2018-05-08]
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The GTPase domain of gamma-tubulin is required for normal mitochondrial function and spatial organization.
Lindström L, Li T, Malycheva D, ..., Rosselló CA, Alvarado-Kristensson M
Commun Biol 1 (1) 37 [2018-05-03; online 2018-05-03]
Integrated Microscopy Technologies Gothenburg [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Transcription profiling of peripheral B cells in antibody-positive primary Sjögren's syndrome reveals upregulated expression of CX3CR1 and a type I and type II interferon signature.
Imgenberg-Kreuz J, Sandling JK, Björk A, ..., Syvänen AC, Nordmark G
Scand. J. Immunol. 87 (5) e12662 [2018-05-00; online 2018-04-15]
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Sulfasalazine-Induced Agranulocytosis Is Associated With the Human Leukocyte Antigen Locus.
Wadelius M, Eriksson N, Kreutz R, ..., Hallberg P, EuDAC
Clin. Pharmacol. Ther. 103 (5) 843-853 [2018-05-00; online 2017-09-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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Host genetic variation strongly influences the microbiome structure and function in fungal fruiting-bodies
Pent M, Hiltunen M, Põldmaa K, ..., Ryberg M, Bahram M
Environ Microbiol 20 (5) 1641-1650 [2018-05-00; online 2018-03-25]
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Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.
Wray NR, Ripke S, Mattheisen M, ..., Sullivan PF, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium
Nat. Genet. 50 (5) 668-681 [2018-05-00; online 2018-04-26]
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DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus.
Imgenberg-Kreuz J, Carlsson Almlöf J, Leonard D, ..., Syvänen AC, Sandling JK
Ann. Rheum. Dis. 77 (5) 736-743 [2018-05-00; online 2018-02-01]
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Significant loss of mitochondrial diversity within the last century due to extinction of peripheral populations in eastern gorillas.
van der Valk T, Sandoval-Castellanos E, Caillaud D, ..., Dalén L, Guschanski K
Sci Rep 8 (1) 6551 [2018-04-25; online 2018-04-25]
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Eleven loci with new reproducible genetic associations with allergic disease risk.
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A GWAS meta-analysis from 5 population-based cohorts implicates ion channel genes in the pathogenesis of irritable bowel syndrome.
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Four millennia of Iberian biomolecular prehistory illustrate the impact of prehistoric migrations at the far end of Eurasia.
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A Meta-Analysis of Genome-Wide Association Studies of Growth Differentiation Factor-15 Concentration in Blood.
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Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals.
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The fungus that came in from the cold: dry rot’s pre-adapted ability to invade buildings
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The ZBED6–IGF2 axis has a major effect on growth of skeletal muscle and internal organs in placental mammals
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Targeted Long-Read Sequencing of a Locus Under Long-Term Balancing Selection in Capsella
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Disruption of Accumbens and Thalamic White Matter Connectivity Revealed by Diffusion Tensor Tractography in Young Men with Genetic Risk for Obesity
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Two novel colorectal cancer risk loci in the region on chromosome 9q22.32
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CheckQC: Quick quality control of Illumina sequencing runs
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De novo mutations implicate novel genes in systemic lupus erythematosus.
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T cells are influenced by a long non-coding RNA in the autoimmune associated PTPN2 locus
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Paternal easiRNAs regulate parental genome dosage in Arabidopsis
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Science of The Total Environment 613-614 (-) 1069-1078 [2018-02-00; online 2018-02-00]
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Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders.
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Twin Res Hum Genet 21 (1) 1-11 [2018-02-00; online 2018-01-08]
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A DNA methylation biomarker of alcohol consumption.
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Genetical genomics of growth in a chicken model.
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BMC Genomics 19 (1) 72 [2018-01-23; online 2018-01-23]
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Demography and mating system shape the genome-wide impact of purifying selection in Arabis alpina.
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Proc. Natl. Acad. Sci. U.S.A. 115 (4) 816-821 [2018-01-23; online 2018-01-04]
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Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.
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