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Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.
Li X, Li Z, Zhou H, Gaynor SM, Liu Y, Chen H, Sun R, Dey R, Arnett DK, Aslibekyan S, Ballantyne CM, Bielak LF, Blangero J, Boerwinkle E, Bowden DW, Broome JG, Conomos MP, Correa A, Cupples LA, Curran JE, Freedman BI, Guo X, Hindy G, Irvin MR, Kardia SLR, Kathiresan S, Khan AT, Kooperberg CL, Laurie CC, Liu XS, Mahaney MC, Manichaikul AW, Martin LW, Mathias RA, McGarvey ST, Mitchell BD, Montasser ME, Moore JE, Morrison AC, O'Connell JR, Palmer ND, Pampana A, Peralta JM, Peyser PA, Psaty BM, Redline S, Rice KM, Rich SS, Smith JA, Tiwari HK, Tsai MY, Vasan RS, Wang FF, Weeks DE, Weng Z, Wilson JG, Yanek LR; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Neale BM, Sunyaev SR, Abecasis GR, Rotter JI, Willer CJ, Peloso GM, Natarajan P, Lin X. Li X, et al. Nat Genet. 2020 Sep;52(9):969-983. doi: 10.1038/s41588-020-0676-4. Epub 2020 Aug 24. Nat Genet. 2020. PMID: 32839606 Free PMC article.
Increased CHIP Prevalence Amongst People Living with HIV.
Bick AG, Popadin K, Thorball CW, Uddin MM, Zanni M, Yu B, Cavassini M, Rauch A, Tarr P, Schmid P, Bernasconi E, Günthard HF, Libby P, Boerwinkle E, McLaren PJ, Ballantyne CM, Grinspoon S, Natarajan P, Fellay J. Bick AG, et al. Among authors: uddin mm. medRxiv [Preprint]. 2020 Nov 7:2020.11.06.20225607. doi: 10.1101/2020.11.06.20225607. medRxiv. 2020. Update in: Sci Rep. 2022 Jan 12;12(1):577. doi: 10.1038/s41598-021-04308-2 PMID: 33173934 Free PMC article. Updated. Preprint.
Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer.
Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Neale B, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ; Biobank Japan Project; FinnGen Consortium; Terao C, Zhao H, Ebert BL; COVID-19 Host Genetics Initiative; Ganna A, Machiela MJ, Genovese G, Natarajan P. Zekavat SM, et al. Among authors: uddin mm. medRxiv [Preprint]. 2020 Nov 16:2020.11.12.20230821. doi: 10.1101/2020.11.12.20230821. medRxiv. 2020. PMID: 33236019 Free PMC article. Preprint.
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection.
Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Wang C, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Bhattacharya R, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Kiryluk K, Neale B, Ionita-Laza I, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ; Biobank Japan Project; FinnGen Consortium; Terao C, Zhao H, Ebert BL, Reilly MP, Ganna A, Machiela MJ, Genovese G, Natarajan P. Zekavat SM, et al. Among authors: uddin mm. Nat Med. 2021 Jun;27(6):1012-1024. doi: 10.1038/s41591-021-01371-0. Epub 2021 Jun 7. Nat Med. 2021. PMID: 34099924 Free PMC article.
Supplemental Association of Clonal Hematopoiesis With Incident Heart Failure.
Yu B, Roberts MB, Raffield LM, Zekavat SM, Nguyen NQH, Biggs ML, Brown MR, Griffin G, Desai P, Correa A, Morrison AC, Shah AM, Niroula A, Uddin MM, Honigberg MC, Ebert BL, Psaty BM, Whitsel EA, Manson JE, Kooperberg C, Bick AG, Ballantyne CM, Reiner AP, Natarajan P, Eaton CB; National Heart, Lung, and Blood Institute TOPMed Consortium. Yu B, et al. Among authors: uddin mm. J Am Coll Cardiol. 2021 Jul 6;78(1):42-52. doi: 10.1016/j.jacc.2021.04.085. J Am Coll Cardiol. 2021. PMID: 34210413 Free PMC article.
Distinction of lymphoid and myeloid clonal hematopoiesis.
Niroula A, Sekar A, Murakami MA, Trinder M, Agrawal M, Wong WJ, Bick AG, Uddin MM, Gibson CJ, Griffin GK, Honigberg MC, Zekavat SM, Paruchuri K, Natarajan P, Ebert BL. Niroula A, et al. Among authors: uddin mm. Nat Med. 2021 Nov;27(11):1921-1927. doi: 10.1038/s41591-021-01521-4. Epub 2021 Oct 18. Nat Med. 2021. PMID: 34663986 Free PMC article.
255 results