NGI SNP genotyping

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Started: -

Ended: Current

Year 2025

PubMed DOI Crossref
A genome-wide association study of imaging-defined atherosclerosis.
Gummesson A, Lundmark P, Chen QS, ..., Fall T, Gigante B
Nat Commun 16 (1) 2266 [2025-03-31; online 2025-03-31]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2024

PubMed DOI Crossref
The evolutionary history of metastatic pancreatic neuroendocrine tumours reveals a therapy driven route to high-grade transformation.
Backman S, Botling J, Nord H, ..., Åkerström T, Crona J
J. Pathol. 264 (4) 357-370 [2024-12-00; online 2024-10-03]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Lifestyle, biological, and genetic factors related to brain iron accumulation across adulthood.
Gustavsson J, Ištvánfyová Z, Papenberg G, ..., Mangialasche F, Kalpouzos G
Neurobiol. Aging 144 (-) 56-67 [2024-12-00; online 2024-09-10]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives.
Samola Winnberg J, Vermani L, Liu W, ..., Lindblad M, Lindblom A
Hered Cancer Clin Pract 22 (1) 25 [2024-11-14; online 2024-11-14]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenome-wide analysis across the development span of pediatric acute lymphoblastic leukemia: backtracking to birth.
Ghantous A, Nusslé SG, Nassar FJ, ..., Munthe-Kaas MC, Herceg Z
Mol. Cancer 23 (1) 238 [2024-10-23; online 2024-10-23]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Associations between epigenetic aging and diabetes mellitus in a Swedish longitudinal study.
Wikström Shemer D, Mostafaei S, Tang B, ..., Fall T, Hägg S
Geroscience 46 (5) 5003-5014 [2024-10-00; online 2024-06-27]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Genetic differentiation and diversity do not explain variation in heterosis or inbreeding depression: empirical evidence from a long-lived iteroparous plant
Söderquist L, Karrenberg S, Sletvold N
Conserv Genet - (-) - [2024-09-17; online 2024-09-17]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mosaic loss of Y chromosome and the association to mortality in Danish men aged 56-100 years.
Hozakowska-Roszkowska DM, Mengel-From J, Hristozova TK, ..., Röttger R, Nygaard M
Mech Ageing Dev 222 (-) 111979 [2024-09-16; online 2024-09-16]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Polygenic Risk Scores and Twin Concordance for Schizophrenia and Bipolar Disorder.
Song J, Pasman JA, Johansson V, ..., Hultman CM, Sullivan PF
JAMA Psychiatry - (-) - [2024-08-28; online 2024-08-28]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
BaTwa populations from Zambia retain ancestry of past hunter-gatherer groups.
Breton G, Barham L, Mudenda G, ..., Schlebusch CM, Jakobsson M
Nat Commun 15 (1) 7307 [2024-08-24; online 2024-08-24]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
FOXO-regulated OSER1 reduces oxidative stress and extends lifespan in multiple species.
Song J, Li Z, Zhou L, ..., Rasmussen LJ, Dai F
Nat Commun 15 (1) 7144 [2024-08-21; online 2024-08-21]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The genetic architecture of dog ownership: large-scale genome-wide association study in 97,552 European-ancestry individuals.
Gong T, Karlsson R, Yao S, ..., Fall T, Almqvist C
G3 (Bethesda) 14 (8) - [2024-08-07; online 2024-05-31]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Predicting type 2 diabetes via machine learning integration of multiple omics from human pancreatic islets.
Rönn T, Perfilyev A, Oskolkov N, Ling C
Sci Rep 14 (1) 14637 [2024-06-25; online 2024-06-25]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Meta-analysis of ACE inhibitor-induced angioedema identifies novel risk locus.
Mathey CM, Maj C, Eriksson N, ..., Nöthen MM, Forstner AJ
J. Allergy Clin. Immunol. 153 (4) 1073-1082 [2024-04-00; online 2024-01-31]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Refining risk prediction in pediatric acute lymphoblastic leukemia through DNA methylation profiling.
Mosquera Orgueira A, Krali O, Pérez Míguez C, ..., Schmiegelow K, Nordlund J
Clin Epigenetics 16 (1) 49 [2024-03-28; online 2024-03-28]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Human PRH1, PRH2 susceptibility and resistance and Streptococcus mutans virulence phenotypes specify different microbial profiles in caries.
Sheng N, Mårell L, Sitaram RT, ..., Westerlund A, Strömberg N
EBioMedicine 101 (-) 105001 [2024-03-00; online 2024-02-15]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Tumor Predisposing Post-Zygotic Chromosomal Alterations in Bladder Cancer-Insights from Histologically Normal Urothelium.
Stańkowska W, Sarkisyan D, Bruhn-Olszewska B, ..., Filipowicz N, Dumanski JP
Cancers (Basel) 16 (5) - [2024-02-27; online 2024-02-27]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenome-wide analysis of frailty: Results from two European twin cohorts.
Mak JKL, Skovgaard AC, Nygaard M, ..., Soerensen M, Jylhävä J
Aging Cell - (-) e14135 [2024-02-27; online 2024-02-27]
NGI SNP genotyping [Service] NGI Short read [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Sustained looking at faces at 5 months of age is associated with socio-communicative skills in the second year of life.
Viktorsson C, Portugal AM, Taylor MJ, Ronald A, Falck-Ytter T
Infancy 29 (3) 459-478 [2024-02-15; online 2024-02-15]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic and environmental contributions to gaze lateralization across social and non-social stimuli in human infants.
Viktorsson C, Portugal AM, Falck-Ytter T
Sci Rep 14 (1) 3668 [2024-02-14; online 2024-02-14]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Fine-scale genetic structure in the orchid Gymnadenia conopsea is not associated with local density of flowering plants.
Sletvold N, Joffard N, Söderquist L
Am. J. Bot. 111 (2) e16273 [2024-02-00; online 2024-01-30]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The genetic legacy of the expansion of Bantu-speaking peoples in Africa.
Fortes-Lima CA, Burgarella C, Hammarén R, ..., Bostoen K, Schlebusch CM
Nature 625 (7995) 540-547 [2024-01-00; online 2023-11-29]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2023

PubMed DOI Crossref
Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia.
Krali O, Marincevic-Zuniga Y, Arvidsson G, ..., Syvänen AC, Nordlund J
NPJ Precis Oncol 7 (1) 131 [2023-12-08; online 2023-12-08]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Shared and distinct pathways and networks genetically linked to coronary artery disease between human and mouse.
Kurt Z, Cheng J, Barrere-Cain R, ..., Blencowe M, Yang X
Elife 12 (-) - [2023-12-07; online 2023-12-07]
NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Meta-Analyses of Genome-Wide Association Studies for Postpartum Depression.
Guintivano J, Byrne EM, Kiewa J, ..., Meltzer-Brody S, Sullivan P
Am J Psychiatry 180 (12) 884-895 [2023-12-01; online 2023-10-18]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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
Infants' looking preferences for social versus non-social objects reflect genetic variation.
Portugal AM, Viktorsson C, Taylor MJ, ..., Ronald A, Falck-Ytter T
Nat Hum Behav - (-) - [2023-11-27; online 2023-11-27]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Smoking affects epigenetic ageing of lung bronchoalveolar lavage cells in Multiple Sclerosis.
Klose D, Needhamsen M, Ringh MV, ..., Jagodic M, Kular L
Mult Scler Relat Disord 79 (-) 104991 [2023-11-00; online 2023-09-09]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Increased MYB alternative promoter usage is associated with relapse in acute lymphoblastic leukemia.
Fehr A, Arvidsson G, Nordlund J, ..., Stenman G, Andersson MK
Genes Chromosomes Cancer 62 (10) 597-606 [2023-10-00; online 2023-05-23]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
B cell polygenic risk scores associate with anti-dsDNA antibodies and nephritis in systemic lupus erythematosus.
Hedenstedt A, Reid S, Sayadi A, ..., Sandling JK, Leonard D
Lupus Sci Med 10 (2) - [2023-10-00; online 2023-10-17]
NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis.
Ekman D, Sennblad B, Knight A, ..., Lindblad-Toh K, Dahlqvist J
Rheumatology (Oxford) 62 (9) 3213-3218 [2023-09-01; online 2023-04-03]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mosaic Loss of Chromosome Y Is Associated With Functional Outcome After Ischemic Stroke.
Dorvall M, Pedersen A, Dumanski JP, ..., Stanne TM, Jern C
Stroke 54 (9) 2434-2437 [2023-09-00; online 2023-07-19]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DNA Methylation Signatures of Multiple Sclerosis Occur Independently of Known Genetic Risk and Are Primarily Attributed to B Cells and Monocytes.
Xavier A, Maltby VE, Ewing E, ..., Lea RA, Lechner-Scott J
Int J Mol Sci 24 (16) - [2023-08-08; online 2023-08-08]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.
Lundtoft C, Eriksson D, Bianchi M, ..., Rönnblom L, Kämpe O
Eur. J. Endocrinol. 189 (2) 235-241 [2023-08-02; online 2023-08-09]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic insights into resting heart rate and its role in cardiovascular disease.
van de Vegte YJ, Eppinga RN, van der Ende MY, ..., Verweij N, van der Harst P
Nat Commun 14 (1) 4646 [2023-08-02; online 2023-08-02]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] 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 11 (8) e2191 [2023-08-00; online 2023-05-08]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Vascular endothelial growth factor-D plasma levels and VEGFD genetic variants are independently associated with outcomes in patients with cardiovascular disease.
Davidsson P, Eketjäll S, Eriksson N, ..., White H, Wallentin L
Cardiovasc. Res. 119 (7) 1596-1605 [2023-07-04; online 2023-03-05]
Affinity Proteomics Uppsala [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Forensic prediction of sex, age, height, body mass index, hip-to-waist ratio, smoking status and lipid lowering drugs using epigenetic markers and plasma proteins.
Llobet MO, Johansson Å, Gyllensten U, Allen M, Enroth S
Forensic Sci Int Genet 65 (-) 102871 [2023-07-00; online 2023-04-07]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic markers associated with bone composition in Rhode Island Red laying hens.
Sallam M, Wilson PW, Andersson B, ..., De Koning DJ, Johnsson M
Genet. Sel. Evol. 55 (1) 44 [2023-06-29; online 2023-06-29]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake.
Williamson A, Norris DM, Yin X, ..., Fazakerley DJ, Langenberg C
Nat. Genet. 55 (6) 973-983 [2023-06-00; online 2023-06-08]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The Swedish childhood tumor biobank: systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden.
Díaz de Ståhl T, Shamikh A, Mayrhofer M, ..., Sandgren J, Nistér M
J Transl Med 21 (1) 342 [2023-05-23; online 2023-05-23]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI SNP genotyping [Service] NGI Short read [Collaborative] NGI Stockholm (Genomics Production) [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
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
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
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
Simultaneous Ultra-Sensitive Detection of Structural and Single Nucleotide Variants Using Multiplex Droplet Digital PCR in Liquid Biopsies from Children with Medulloblastoma.
Arthur C, Jylhä C, de Ståhl TD, ..., Sandvik U, Tham E
Cancers (Basel) 15 (7) - [2023-03-25; online 2023-03-25]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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
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
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 (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2022

PubMed DOI Crossref
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
Kanoni S, Graham SE, Wang Y, ..., Assimes TL, Peloso GM
Genome Biol. 23 (1) 268 [2022-12-27; online 2022-12-27]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Leukocyte DNA methylation in Alzheimer´s disease associated genes: replication of findings from neuronal cells.
Karlsson IK, Ploner A, Wang Y, ..., Pedersen NL, Hägg S
Epigenetics - (-) 1-5 [2022-12-26; online 2022-12-26]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetics of tibia bone properties of crossbred commercial laying hens in different housing systems.
Johnsson M, Wall H, Lopes Pinto FA, ..., Kindmark A, de Koning DJ
G3 (Bethesda) - (-) - [2022-12-01; online 2022-12-01]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association and Mendelian randomization study of fibroblast growth factor 21 reveals causal associations with hyperlipidemia and possibly NASH.
Larsson SC, Michaëlsson K, Mola-Caminal M, Höijer J, Mantzoros CS
Metabolism 137 (-) 155329 [2022-12-00; online 2022-10-05]
Affinity Proteomics Uppsala [Service] Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Dynamic patterns of blood lipids and DNA methylation in response to statin therapy.
Qin X, Wang Y, Pedersen NL, Tang B, Hägg S
Clin Epigenetics 14 (1) 153 [2022-11-28; online 2022-11-28]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Anti-citrullinated protein antibody specificities and pulmonary fibrosis in relation to genetic loci in early rheumatoid arthritis.
Brink M, Ljung L, Hansson M, ..., Klareskog L, Rantapää-Dahlqvist S
Rheumatology (Oxford) 61 (12) 4985-4990 [2022-11-28; online 2022-05-10]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Meta-analysis of genome-wide association studies of hoarding symptoms in 27,537 individuals.
Strom NI, Smit DJA, Silzer T, ..., Mataix-Cols D, Cath D
Transl Psychiatry 12 (1) 479 [2022-11-15; online 2022-11-15]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits.
Liu L, Khan A, Sanchez-Rodriguez E, ..., Gharavi AG, Kiryluk K
Nat Commun 13 (1) 6859 [2022-11-11; online 2022-11-11]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Stroke genetics informs drug discovery and risk prediction across ancestries.
Mishra A, Malik R, Hachiya T, ..., Dichgans M, Debette S
Nature 611 (7934) 115-123 [2022-11-00; online 2022-09-30]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease.
Yavuz S, Pucholt P, Sandling JK, ..., Lindblad-Toh K, Rönnblom L
Lupus Sci Med 9 (1) - [2022-11-00; online 2022-11-05]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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
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]
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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]
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Genomic and gene expression associations to morphology of a sexual ornament in the chicken.
Bakovic V, Höglund A, Martin Cerezo ML, Henriksen R, Wright D
G3 (Bethesda) 12 (9) jkac174 [2022-08-25; online 2022-07-09]
Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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 multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
Ramdas S, Judd J, Graham SE, ..., Zhu X, Brown CD
The American Journal of Human Genetics 109 (8) 1366-1387 [2022-08-00; online 2022-08-00]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells.
Khatri B, Tessneer KL, Rasmussen A, ..., Nordmark G, Lessard CJ
Nat Commun 13 (1) 4287 [2022-07-27; online 2022-07-27]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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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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]
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DOI Crossref
Improving lithium dose prediction using population pharmacokinetics and pharmacogenomics: a cohort genome-wide association study in Sweden
Millischer V, Matheson GJ, Bergen SE, ..., Lavebratt C, Schalling M
The Lancet Psychiatry 9 (6) 447-457 [2022-06-00; online 2022-06-00]
NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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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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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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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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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]
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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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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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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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Loss of Y and clonal hematopoiesis in blood-two sides of the same coin?
Ljungström V, Mattisson J, Halvardson J, ..., Baliakas P, Forsberg LA
Leukemia 36 (3) 889-891 [2022-03-00; online 2021-11-01]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Uppsala [Service] NGI SNP genotyping [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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Year 2020

PubMed DOI Crossref
The proliferative history shapes the DNA methylome of B-cell tumors and predicts clinical outcome.
Duran-Ferrer M, Clot G, Nadeu F, ..., Campo E, Martín-Subero JI
Nat Cancer 1 (11) 1066-1081 [2020-11-00; online 2020-11-02]
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SciLifeLab Data Centre
Publications 9.5.1