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Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease.
Horowitz JE, Kosmicki JA, Damask A, Sharma D, Roberts GHL, Justice AE, Banerjee N, Coignet MV, Yadav A, Leader JB, Marcketta A, Park DS, Lanche R, Maxwell E, Knight SC, Bai X, Guturu H, Sun D, Baltzell A, Kury FSP, Backman JD, Girshick AR, O'Dushlaine C, McCurdy SR, Partha R, Mansfield AJ, Turissini DA, Li AH, Zhang M, Mbatchou J, Watanabe K, Gurski L, McCarthy SE, Kang HM, Dobbyn L, Stahl E, Verma A, Sirugo G; Regeneron Genetics Center; Ritchie MD, Jones M, Balasubramanian S, Siminovitch K, Salerno WJ, Shuldiner AR, Rader DJ, Mirshahi T, Locke AE, Marchini J, Overton JD, Carey DJ, Habegger L, Cantor MN, Rand KA, Hong EL, Reid JG, Ball CA, Baras A, Abecasis GR, Ferreira MA. Horowitz JE, et al. Among authors: bai x. medRxiv [Preprint]. 2021 Jun 10:2020.12.14.20248176. doi: 10.1101/2020.12.14.20248176. medRxiv. 2021. Update in: Nat Genet. 2022 Apr;54(4):382-392. doi: 10.1038/s41588-021-01006-7 PMID: 33619501 Free PMC article. Updated. Preprint.
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.
Staples J, Maxwell EK, Gosalia N, Gonzaga-Jauregui C, Snyder C, Hawes A, Penn J, Ulloa R, Bai X, Lopez AE, Van Hout CV, O'Dushlaine C, Teslovich TM, McCarthy SE, Balasubramanian S, Kirchner HL, Leader JB, Murray MF, Ledbetter DH, Shuldiner AR, Yancoupolos GD, Dewey FE, Carey DJ, Overton JD, Baras A, Habegger L, Reid JG. Staples J, et al. Among authors: bai x. Am J Hum Genet. 2018 May 3;102(5):874-889. doi: 10.1016/j.ajhg.2018.03.012. Am J Hum Genet. 2018. PMID: 29727688 Free PMC article.
ALG9 Mutation Carriers Develop Kidney and Liver Cysts.
Besse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, Hartzel DN, Mane S; Regeneron Genetics Center; Torres VE, Somlo S, Mirshahi T. Besse W, et al. J Am Soc Nephrol. 2019 Nov;30(11):2091-2102. doi: 10.1681/ASN.2019030298. Epub 2019 Aug 8. J Am Soc Nephrol. 2019. PMID: 31395617 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.
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.
Vujkovic M, Keaton JM, Lynch JA, Miller DR, Zhou J, Tcheandjieu C, Huffman JE, Assimes TL, Lorenz K, Zhu X, Hilliard AT, Judy RL, Huang J, Lee KM, Klarin D, Pyarajan S, Danesh J, Melander O, Rasheed A, Mallick NH, Hameed S, Qureshi IH, Afzal MN, Malik U, Jalal A, Abbas S, Sheng X, Gao L, Kaestner KH, Susztak K, Sun YV, DuVall SL, Cho K, Lee JS, Gaziano JM, Phillips LS, Meigs JB, Reaven PD, Wilson PW, Edwards TL, Rader DJ, Damrauer SM, O'Donnell CJ, Tsao PS; HPAP Consortium; Regeneron Genetics Center; VA Million Veteran Program; Chang KM, Voight BF, Saleheen D. Vujkovic M, et al. Nat Genet. 2020 Jul;52(7):680-691. doi: 10.1038/s41588-020-0637-y. Epub 2020 Jun 15. Nat Genet. 2020. PMID: 32541925 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. Among authors: bai x. 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.
MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk.
Surakka I, Fritsche LG, Zhou W, Backman J, Kosmicki JA, Lu H, Brumpton B, Nielsen JB, Gabrielsen ME, Skogholt AH, Wolford B, Graham SE, Chen YE, Lee S, Kang HM, Langhammer A, Forsmo S, Åsvold BO, Styrkarsdottir U, Holm H, Gudbjartsson D, Stefansson K, Baras A; Regeneron Genetics Center; Abecasis GR, Hveem K, Willer CJ. Surakka I, et al. Nat Commun. 2020 Oct 23;11(1):4093. doi: 10.1038/s41467-020-17315-0. Nat Commun. 2020. PMID: 33097703 Free PMC article.
A catalog of associations between rare coding variants and COVID-19 outcomes.
Kosmicki JA, Horowitz JE, Banerjee N, Lanche R, Marcketta A, Maxwell E, Bai X, Sun D, Backman JD, Sharma D, Kang HM, O'Dushlaine C, Yadav A, Mansfield AJ, Li AH, Watanabe K, Gurski L, McCarthy SE, Locke AE, Khalid S, O'Keeffe S, Mbatchou J, Chazara O, Huang Y, Kvikstad E, O'Neill A, Nioi P, Parker MM, Petrovski S, Runz H, Szustakowski JD, Wang Q, Wong E, Cordova-Palomera A, Smith EN, Szalma S, Zheng X, Esmaeeli S, Davis JW, Lai YP, Chen X, Justice AE, Leader JB, Mirshahi T, Carey DJ, Verma A, Sirugo G, Ritchie MD, Rader DJ, Povysil G, Goldstein DB, Kiryluk K, Pairo-Castineira E, Rawlik K, Pasko D, Walker S, Meynert A, Kousathanas A, Moutsianas L, Tenesa A, Caulfield M, Scott R, Wilson JF, Baillie JK, Butler-Laporte G, Nakanishi T, Lathrop M, Richards JB; Regeneron Genetics Center; UKB Exome Sequencing Consortium; Jones M, Balasubramanian S, Salerno W, Shuldiner AR, Marchini J, Overton JD, Habegger L, Cantor MN, Reid JG, Baras A, Abecasis GR, Ferreira MA. Kosmicki JA, et al. Among authors: bai x. medRxiv [Preprint]. 2021 Feb 27:2020.10.28.20221804. doi: 10.1101/2020.10.28.20221804. medRxiv. 2021. PMID: 33655273 Free PMC article. Preprint.
9,651 results