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2018 1
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Page 1
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD, Li AH, Marcketta A, Sun D, Mbatchou J, Kessler MD, Benner C, Liu D, Locke AE, Balasubramanian S, Yadav A, Banerjee N, Gillies CE, Damask A, Liu S, Bai X, Hawes A, Maxwell E, Gurski L, Watanabe K, Kosmicki JA, Rajagopal V, Mighty J; Regeneron Genetics Center; DiscovEHR; Jones M, Mitnaul L, Stahl E, Coppola G, Jorgenson E, Habegger L, Salerno WJ, Shuldiner AR, Lotta LA, Overton JD, Cantor MN, Reid JG, Yancopoulos G, Kang HM, Marchini J, Baras A, Abecasis GR, Ferreira MAR. Backman JD, et al. Nature. 2021 Nov;599(7886):628-634. doi: 10.1038/s41586-021-04103-z. Epub 2021 Oct 18. Nature. 2021. PMID: 34662886 Free PMC article.
Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.
Boer CG, Hatzikotoulas K, Southam L, Stefánsdóttir L, Zhang Y, Coutinho de Almeida R, Wu TT, Zheng J, Hartley A, Teder-Laving M, Skogholt AH, Terao C, Zengini E, Alexiadis G, Barysenka A, Bjornsdottir G, Gabrielsen ME, Gilly A, Ingvarsson T, Johnsen MB, Jonsson H, Kloppenburg M, Luetge A, Lund SH, Mägi R, Mangino M, Nelissen RRGHH, Shivakumar M, Steinberg J, Takuwa H, Thomas LF, Tuerlings M; arcOGEN Consortium; HUNT All-In Pain; ARGO Consortium; Regeneron Genetics Center; Babis GC, Cheung JPY, Kang JH, Kraft P, Lietman SA, Samartzis D, Slagboom PE, Stefansson K, Thorsteinsdottir U, Tobias JH, Uitterlinden AG, Winsvold B, Zwart JA, Davey Smith G, Sham PC, Thorleifsson G, Gaunt TR, Morris AP, Valdes AM, Tsezou A, Cheah KSE, Ikegawa S, Hveem K, Esko T, Wilkinson JM, Meulenbelt I, Lee MTM, van Meurs JBJ, Styrkársdóttir U, Zeggini E. Boer CG, et al. Cell. 2021 Sep 2;184(18):4784-4818.e17. doi: 10.1016/j.cell.2021.07.038. Epub 2021 Aug 26. Cell. 2021. PMID: 34450027 Free PMC article.
Plasma proteomic associations with genetics and health in the UK Biobank.
Sun BB, Chiou J, Traylor M, Benner C, Hsu YH, Richardson TG, Surendran P, Mahajan A, Robins C, Vasquez-Grinnell SG, Hou L, Kvikstad EM, Burren OS, Davitte J, Ferber KL, Gillies CE, Hedman ÅK, Hu S, Lin T, Mikkilineni R, Pendergrass RK, Pickering C, Prins B, Baird D, Chen CY, Ward LD, Deaton AM, Welsh S, Willis CM, Lehner N, Arnold M, Wörheide MA, Suhre K, Kastenmüller G, Sethi A, Cule M, Raj A; Alnylam Human Genetics; AstraZeneca Genomics Initiative; Biogen Biobank Team; Bristol Myers Squibb; Genentech Human Genetics; GlaxoSmithKline Genomic Sciences; Pfizer Integrative Biology; Population Analytics of Janssen Data Sciences; Regeneron Genetics Center; Burkitt-Gray L, Melamud E, Black MH, Fauman EB, Howson JMM, Kang HM, McCarthy MI, Nioi P, Petrovski S, Scott RA, Smith EN, Szalma S, Waterworth DM, Mitnaul LJ, Szustakowski JD, Gibson BW, Miller MR, Whelan CD. Sun BB, et al. Nature. 2023 Oct;622(7982):329-338. doi: 10.1038/s41586-023-06592-6. Epub 2023 Oct 4. Nature. 2023. PMID: 37794186 Free PMC article.
Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity.
Akbari P, Gilani A, Sosina O, Kosmicki JA, Khrimian L, Fang YY, Persaud T, Garcia V, Sun D, Li A, Mbatchou J, Locke AE, Benner C, Verweij N, Lin N, Hossain S, Agostinucci K, Pascale JV, Dirice E, Dunn M; Regeneron Genetics Center; DiscovEHR Collaboration; Kraus WE, Shah SH, Chen YI, Rotter JI, Rader DJ, Melander O, Still CD, Mirshahi T, Carey DJ, Berumen-Campos J, Kuri-Morales P, Alegre-Díaz J, Torres JM, Emberson JR, Collins R, Balasubramanian S, Hawes A, Jones M, Zambrowicz B, Murphy AJ, Paulding C, Coppola G, Overton JD, Reid JG, Shuldiner AR, Cantor M, Kang HM, Abecasis GR, Karalis K, Economides AN, Marchini J, Yancopoulos GD, Sleeman MW, Altarejos J, Della Gatta G, Tapia-Conyer R, Schwartzman ML, Baras A, Ferreira MAR, Lotta LA. Akbari P, et al. Science. 2021 Jul 2;373(6550):eabf8683. doi: 10.1126/science.abf8683. Science. 2021. PMID: 34210852 Free PMC article.
Common and rare variant associations with clonal haematopoiesis phenotypes.
Kessler MD, Damask A, O'Keeffe S, Banerjee N, Li D, Watanabe K, Marketta A, Van Meter M, Semrau S, Horowitz J, Tang J, Kosmicki JA, Rajagopal VM, Zou Y, Houvras Y, Ghosh A, Gillies C, Mbatchou J, White RR, Verweij N, Bovijn J, Parikshak NN, LeBlanc MG, Jones M; Regeneron Genetics Center; GHS-RGC DiscovEHR Collaboration; Glass DJ, Lotta LA, Cantor MN, Atwal GS, Locke AE, Ferreira MAR, Deering R, Paulding C, Shuldiner AR, Thurston G, Ferrando AA, Salerno W, Reid JG, Overton JD, Marchini J, Kang HM, Baras A, Abecasis GR, Jorgenson E. Kessler MD, et al. Nature. 2022 Dec;612(7939):301-309. doi: 10.1038/s41586-022-05448-9. Epub 2022 Nov 30. Nature. 2022. PMID: 36450978 Free PMC article.
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV, Tachmazidou I, Backman JD, Hoffman JD, Liu D, Pandey AK, Gonzaga-Jauregui C, Khalid S, Ye B, Banerjee N, Li AH, O'Dushlaine C, Marcketta A, Staples J, Schurmann C, Hawes A, Maxwell E, Barnard L, Lopez A, Penn J, Habegger L, Blumenfeld AL, Bai X, O'Keeffe S, Yadav A, Praveen K, Jones M, Salerno WJ, Chung WK, Surakka I, Willer CJ, Hveem K, Leader JB, Carey DJ, Ledbetter DH; Geisinger-Regeneron DiscovEHR Collaboration; Cardon L, Yancopoulos GD, Economides A, Coppola G, Shuldiner AR, Balasubramanian S, Cantor M; Regeneron Genetics Center; Nelson MR, Whittaker J, Reid JG, Marchini J, Overton JD, Scott RA, Abecasis GR, Yerges-Armstrong L, Baras A. Van Hout CV, et al. Nature. 2020 Oct;586(7831):749-756. doi: 10.1038/s41586-020-2853-0. Epub 2020 Oct 21. Nature. 2020. PMID: 33087929 Free PMC article.
A deep catalogue of protein-coding variation in 983,578 individuals.
Sun KY, Bai X, Chen S, Bao S, Zhang C, Kapoor M, Backman J, Joseph T, Maxwell E, Mitra G, Gorovits A, Mansfield A, Boutkov B, Gokhale S, Habegger L, Marcketta A, Locke AE, Ganel L, Hawes A, Kessler MD, Sharma D, Staples J, Bovijn J, Gelfman S, Di Gioia A, Rajagopal VM, Lopez A, Varela JR, Alegre-Díaz J, Berumen J, Tapia-Conyer R, Kuri-Morales P, Torres J, Emberson J, Collins R; Regeneron Genetics Center; RGC-ME Cohort Partners; Cantor M, Thornton T, Kang HM, Overton JD, Shuldiner AR, Cremona ML, Nafde M, Baras A, Abecasis G, Marchini J, Reid JG, Salerno W, Balasubramanian S. Sun KY, et al. Nature. 2024 Jul;631(8021):583-592. doi: 10.1038/s41586-024-07556-0. Epub 2024 May 20. Nature. 2024. PMID: 38768635 Free PMC article.
Large-scale genome-wide association study of coronary artery disease in genetically diverse populations.
Tcheandjieu C, Zhu X, Hilliard AT, Clarke SL, Napolioni V, Ma S, Lee KM, Fang H, Chen F, Lu Y, Tsao NL, Raghavan S, Koyama S, Gorman BR, Vujkovic M, Klarin D, Levin MG, Sinnott-Armstrong N, Wojcik GL, Plomondon ME, Maddox TM, Waldo SW, Bick AG, Pyarajan S, Huang J, Song R, Ho YL, Buyske S, Kooperberg C, Haessler J, Loos RJF, Do R, Verbanck M, Chaudhary K, North KE, Avery CL, Graff M, Haiman CA, Le Marchand L, Wilkens LR, Bis JC, Leonard H, Shen B, Lange LA, Giri A, Dikilitas O, Kullo IJ, Stanaway IB, Jarvik GP, Gordon AS, Hebbring S, Namjou B, Kaufman KM, Ito K, Ishigaki K, Kamatani Y, Verma SS, Ritchie MD, Kember RL, Baras A, Lotta LA; Regeneron Genetics Center; CARDIoGRAMplusC4D Consortium; Biobank Japan; Million Veteran Program; Kathiresan S, Hauser ER, Miller DR, Lee JS, Saleheen D, Reaven PD, Cho K, Gaziano JM, Natarajan P, Huffman JE, Voight BF, Rader DJ, Chang KM, Lynch JA, Damrauer SM, Wilson PWF, Tang H, Sun YV, Tsao PS, O'Donnell CJ, Assimes TL. Tcheandjieu C, et al. Nat Med. 2022 Aug;28(8):1679-1692. doi: 10.1038/s41591-022-01891-3. Epub 2022 Aug 1. Nat Med. 2022. PMID: 35915156 Free PMC article.
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure.
Shah S, Henry A, Roselli C, Lin H, Sveinbjörnsson G, Fatemifar G, Hedman ÅK, Wilk JB, Morley MP, Chaffin MD, Helgadottir A, Verweij N, Dehghan A, Almgren P, Andersson C, Aragam KG, Ärnlöv J, Backman JD, Biggs ML, Bloom HL, Brandimarto J, Brown MR, Buckbinder L, Carey DJ, Chasman DI, Chen X, Chen X, Chung J, Chutkow W, Cook JP, Delgado GE, Denaxas S, Doney AS, Dörr M, Dudley SC, Dunn ME, Engström G, Esko T, Felix SB, Finan C, Ford I, Ghanbari M, Ghasemi S, Giedraitis V, Giulianini F, Gottdiener JS, Gross S, Guðbjartsson DF, Gutmann R, Haggerty CM, van der Harst P, Hyde CL, Ingelsson E, Jukema JW, Kavousi M, Khaw KT, Kleber ME, Køber L, Koekemoer A, Langenberg C, Lind L, Lindgren CM, London B, Lotta LA, Lovering RC, Luan J, Magnusson P, Mahajan A, Margulies KB, März W, Melander O, Mordi IR, Morgan T, Morris AD, Morris AP, Morrison AC, Nagle MW, Nelson CP, Niessner A, Niiranen T, O'Donoghue ML, Owens AT, Palmer CNA, Parry HM, Perola M, Portilla-Fernandez E, Psaty BM; Regeneron Genetics Center; Rice KM, Ridker PM, Romaine SPR, Rotter JI, Salo P, Salomaa V, van Setten J, Shalaby AA, Smelser DT, Smith NL, Stender S, Stott DJ, Svensson P, Tammesoo ML, Taylor KD, Teder-Laving M, Teumer A,… See abstract for full author list ➔ Shah S, et al. Nat Commun. 2020 Jan 9;11(1):163. doi: 10.1038/s41467-019-13690-5. Nat Commun. 2020. PMID: 31919418 Free PMC article.
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.
Jurgens SJ, Choi SH, Morrill VN, Chaffin M, Pirruccello JP, Halford JL, Weng LC, Nauffal V, Roselli C, Hall AW, Oetjens MT, Lagerman B, vanMaanen DP; Regeneron Genetics Center; Aragam KG, Lunetta KL, Haggerty CM, Lubitz SA, Ellinor PT. Jurgens SJ, et al. Nat Genet. 2022 Mar;54(3):240-250. doi: 10.1038/s41588-021-01011-w. Epub 2022 Feb 17. Nat Genet. 2022. PMID: 35177841 Free PMC article.
169 results