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Page 1
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: hawes a. 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.
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.
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.
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank.
Szustakowski JD, Balasubramanian S, Kvikstad E, Khalid S, Bronson PG, Sasson A, Wong E, Liu D, Wade Davis J, Haefliger C, Katrina Loomis A, Mikkilineni R, Noh HJ, Wadhawan S, Bai X, Hawes A, Krasheninina O, Ulloa R, Lopez AE, Smith EN, Waring JF, Whelan CD, Tsai EA, Overton JD, Salerno WJ, Jacob H, Szalma S, Runz H, Hinkle G, Nioi P, Petrovski S, Miller MR, Baras A, Mitnaul LJ, Reid JG; UKB-ESC Research Team. Szustakowski JD, et al. Among authors: hawes a. Nat Genet. 2021 Jul;53(7):942-948. doi: 10.1038/s41588-021-00885-0. Epub 2021 Jun 28. Nat Genet. 2021. PMID: 34183854 Review.
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. Among authors: hawes a. 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.
Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with 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 MAR. Horowitz JE, et al. Nat Genet. 2022 Apr;54(4):382-392. doi: 10.1038/s41588-021-01006-7. Epub 2022 Mar 3. Nat Genet. 2022. PMID: 35241825 Free PMC article.
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.
Praveen K, Dobbyn L, Gurski L, Ayer AH, Staples J, Mishra S, Bai Y, Kaufman A, Moscati A, Benner C, Chen E, Chen S, Popov A, Smith J; GHS-REGN DiscovEHR collaboration; Regeneron Genetics Center; Decibel-REGN collaboration; Melander O, Jones MB, Marchini J, Balasubramanian S, Zambrowicz B, Drummond MC, Baras A, Abecasis GR, Ferreira MA, Stahl EA, Coppola G. Praveen K, et al. Commun Biol. 2022 Jun 3;5(1):540. doi: 10.1038/s42003-022-03408-7. Commun Biol. 2022. PMID: 35661827 Free PMC article.
Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies.
Cavazos TB, Kachuri L, Graff RE, Nierenberg JL, Thai KK, Alexeeff S, Van Den Eeden S, Corley DA, Kushi LH; Regeneron Genetics Center; Hoffmann TJ, Ziv E, Habel LA, Jorgenson E, Sakoda LC, Witte JS. Cavazos TB, et al. BMC Med. 2022 Oct 6;20(1):332. doi: 10.1186/s12916-022-02535-6. BMC Med. 2022. PMID: 36199081 Free PMC article.
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: hawes a. 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.
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.
114 results