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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. Among authors: chen h. 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.
Rare and low-frequency exonic variants and gene-by-smoking interactions in pulmonary function.
Yang T, Jackson VE, Smith AV, Chen H, Bartz TM, Sitlani CM, Psaty BM, Gharib SA, O'Connor GT, Dupuis J, Xu J, Lohman K, Liu Y, Kritchevsky SB, Cassano PA, Flexeder C, Gieger C, Karrasch S, Peters A, Schulz H, Harris SE, Starr JM, Deary IJ, Manichaikul A, Oelsner EC, Barr RG, Taylor KD, Rich SS, Bonten TN, Mook-Kanamori DO, Noordam R, Li-Gao R, Jarvelin MR, Wielscher M, Terzikhan N, Lahousse L, Brusselle G, Weiss S, Ewert R, Gläser S, Homuth G, Shrine N, Hall IP, Tobin M, London SJ, Wei P, Morrison AC. Yang T, et al. Among authors: chen h. Sci Rep. 2021 Sep 29;11(1):19365. doi: 10.1038/s41598-021-98120-7. Sci Rep. 2021. PMID: 34588469 Free PMC article.
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