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Page 1
The Development of an Infrastructure to Facilitate the Use of Whole Genome Sequencing for Population Health.
Walton NA, Hafen B, Graceffo S, Sutherland N, Emmerson M, Palmquist R, Formea CM, Purcell M, Heale B, Brown MA, Danford CJ, Rachamadugu SI, Person TN, Shortt KA, Christensen GB, Evans JM, Raghunath S, Johnson CP, Knight S, Le VT, Anderson JL, Van Meter M, Reading T, Haslem DS, Hansen IC, Batcher B, Barker T, Sheffield TJ, Yandava B, Taylor DP, Ranade-Kharkar P, Giauque CC, Eyring KR, Breinholt JW, Miller MR, Carter PR, Gillman JL, Gunn AW, Knowlton KU, Bonkowsky JL, Stefansson K, Nadauld LD, McLeod HL. Walton NA, et al. Among authors: stefansson k. J Pers Med. 2022 Nov 8;12(11):1867. doi: 10.3390/jpm12111867. J Pers Med. 2022. PMID: 36579594 Free PMC article.
Defining the role of common variation in the genomic and biological architecture of adult human height.
Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, Chu AY, Estrada K, Luan J, Kutalik Z, Amin N, Buchkovich ML, Croteau-Chonka DC, Day FR, Duan Y, Fall T, Fehrmann R, Ferreira T, Jackson AU, Karjalainen J, Lo KS, Locke AE, Mägi R, Mihailov E, Porcu E, Randall JC, Scherag A, Vinkhuyzen AA, Westra HJ, Winkler TW, Workalemahu T, Zhao JH, Absher D, Albrecht E, Anderson D, Baron J, Beekman M, Demirkan A, Ehret GB, Feenstra B, Feitosa MF, Fischer K, Fraser RM, Goel A, Gong J, Justice AE, Kanoni S, Kleber ME, Kristiansson K, Lim U, Lotay V, Lui JC, Mangino M, Mateo Leach I, Medina-Gomez C, Nalls MA, Nyholt DR, Palmer CD, Pasko D, Pechlivanis S, Prokopenko I, Ried JS, Ripke S, Shungin D, Stancáková A, Strawbridge RJ, Sung YJ, Tanaka T, Teumer A, Trompet S, van der Laan SW, van Setten J, Van Vliet-Ostaptchouk JV, Wang Z, Yengo L, Zhang W, Afzal U, Arnlöv J, Arscott GM, Bandinelli S, Barrett A, Bellis C, Bennett AJ, Berne C, Blüher M, Bolton JL, Böttcher Y, Boyd HA, Bruinenberg M, Buckley BM, Buyske S, Caspersen IH, Chines PS, Clarke R, Claudi-Boehm S, Cooper M, Daw EW, De Jong PA, Deelen J, Delgado G, Denny JC, Dhonukshe-Rutten R, Dimitriou M, Doney AS, Dörr M, Eklund N, Eury E, F… See abstract for full author list ➔ Wood AR, et al. Among authors: stefansson k. Nat Genet. 2014 Nov;46(11):1173-86. doi: 10.1038/ng.3097. Epub 2014 Oct 5. Nat Genet. 2014. PMID: 25282103 Free PMC article.
Author Correction: Large-scale plasma proteomics comparisons through genetics and disease associations.
Eldjarn GH, Ferkingstad E, Lund SH, Helgason H, Magnusson OT, Gunnarsdottir K, Olafsdottir TA, Halldorsson BV, Olason PI, Zink F, Gudjonsson SA, Sveinbjornsson G, Magnusson MI, Helgason A, Oddsson A, Halldorsson GH, Magnusson MK, Saevarsdottir S, Eiriksdottir T, Masson G, Stefansson H, Jonsdottir I, Holm H, Rafnar T, Melsted P, Saemundsdottir J, Norddahl GL, Thorleifsson G, Ulfarsson MO, Gudbjartsson DF, Thorsteinsdottir U, Sulem P, Stefansson K. Eldjarn GH, et al. Among authors: stefansson k. Nature. 2024 May 22. doi: 10.1038/s41586-024-07549-z. Online ahead of print. Nature. 2024. PMID: 38778117 No abstract available.
The Association of Urinary Sodium Excretion with Glaucoma and Related Traits in a Large United Kingdom Population.
Stuart KV, Biradar MI, Luben RN, Dhaun N, Wagner SK, Warwick AN, Sun Z, Madjedi KM, Pasquale LR, Wiggs JL, Kang JH, Lentjes MAH, Aschard H, Kim J, Foster PJ, Khawaja AP; Modifiable Risk Factors for Glaucoma Collaboration, the UK Biobank Eye and Vision Consortium, and the International Glaucoma Genetics Consortium. Stuart KV, et al. Ophthalmol Glaucoma. 2024 May 7:S2589-4196(24)00074-7. doi: 10.1016/j.ogla.2024.04.010. Online ahead of print. Ophthalmol Glaucoma. 2024. PMID: 38723778 Free article.
GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis.
Skuladottir AT, Stefansdottir L, Halldorsson GH, Stefansson OA, Bjornsdottir A, Jonsson P, Palmadottir V, Thorgeirsson TE, Walters GB, Gisladottir RS, Bjornsdottir G, Jonsdottir GA, Sulem P, Gudbjartsson DF, Knowlton KU, Jones DA, Ottas A; Estonian Biobank; Pedersen OB, Didriksen M, Brunak S, Banasik K, Hansen TF, Erikstrup C; DBDS Genomic Consortium; Haavik J, Andreassen OA, Rye D, Igland J, Ostrowski SR, Milani LA, Nadauld LD, Stefansson H, Stefansson K. Skuladottir AT, et al. Among authors: stefansson k. Commun Biol. 2024 Apr 26;7(1):504. doi: 10.1038/s42003-024-06207-4. Commun Biol. 2024. PMID: 38671141 Free PMC article.
Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling.
Kentistou KA, Lim BEM, Kaisinger LR, Steinthorsdottir V, Sharp LN, Patel KA, Tragante V, Hawkes G, Gardner EJ, Olafsdottir T, Wood AR, Zhao Y, Thorleifsson G, Day FR, Ozanne SE, Hattersley AT, O'Rahilly S, Stefansson K, Ong KK, Beaumont RN, Perry JRB, Freathy RM. Kentistou KA, et al. Among authors: stefansson k. medRxiv [Preprint]. 2024 Apr 3:2024.04.03.24305248. doi: 10.1101/2024.04.03.24305248. medRxiv. 2024. PMID: 38633783 Free PMC article. Preprint.
Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.
Ghouse J, Sveinbjörnsson G, Vujkovic M, Seidelin AS, Gellert-Kristensen H, Ahlberg G, Tragante V, Rand SA, Brancale J, Vilarinho S, Lundegaard PR, Sørensen E, Erikstrup C, Bruun MT, Jensen BA, Brunak S, Banasik K, Ullum H; DBDS Genomic Consortium; Verweij N, Lotta L, Baras A; Regeneron Genetics Center; Mirshahi T, Carey DJ; Geisinger-Regeneron DiscovEHR Collaboration; VA Million Veteran Program; Kaplan DE, Lynch J, Morgan T, Schwantes-An TH, Dochtermann DR, Pyarajan S, Tsao PS; Estonian Biobank Research Team; Laisk T, Mägi R, Kozlitina J, Tybjærg-Hansen A, Jones D, Knowlton KU, Nadauld L, Ferkingstad E, Björnsson ES, Ulfarsson MO, Sturluson Á, Sulem P, Pedersen OB, Ostrowski SR, Gudbjartsson DF, Stefansson K, Olesen MS, Chang KM, Holm H, Bundgaard H, Stender S. Ghouse J, et al. Among authors: stefansson k. Nat Genet. 2024 May;56(5):827-837. doi: 10.1038/s41588-024-01720-y. Epub 2024 Apr 17. Nat Genet. 2024. PMID: 38632349 Free PMC article.
Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum.
Venkatesh SS, Wittemans LBL, Palmer DS, Baya NA, Ferreira T, Hill B, Lassen FH, Parker MJ, Reibe S, Elhakeem A, Banasik K, Bruun MT, Erikstrup C, Jensen BA, Juul A, Mikkelsen C, Nielsen HS, Ostrowski SR, Pedersen OB, Rohde PD, Sorensen E, Ullum H, Westergaard D, Haraldsson A, Holm H, Jonsdottir I, Olafsson I, Steingrimsdottir T, Steinthorsdottir V, Thorleifsson G, Figueredo J, Karjalainen MK, Pasanen A, Jacobs BM, Hubers N; Genes & Health Research Team; Estonian Biobank Research Team; Estonian Health Informatics Research Team; DBDS Genomic Consortium; FinnGen; Lippincott M, Fraser A, Lawlor DA, Timpson NJ, Nyegaard M, Stefansson K, Magi R, Laivuori H, van Heel DA, Boomsma DI, Balasubramanian R, Seminara SB, Chan YM, Laisk T, Lindgren CM. Venkatesh SS, et al. Among authors: stefansson k. medRxiv [Preprint]. 2024 Mar 20:2024.03.19.24304530. doi: 10.1101/2024.03.19.24304530. medRxiv. 2024. PMID: 38562841 Free PMC article. Preprint.
1,022 results