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RAREsim: A simulation method for very rare genetic variants.
Null M, Dupuis J, Sheinidashtegol P, Layer RM, Gignoux CR, Hendricks AE. Null M, et al. Among authors: gignoux cr. Am J Hum Genet. 2022 Apr 7;109(4):680-691. doi: 10.1016/j.ajhg.2022.02.009. Epub 2022 Mar 16. Am J Hum Genet. 2022. PMID: 35298919 Free PMC article.
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.
Summix: A method for detecting and adjusting for population structure in genetic summary data.
Arriaga-MacKenzie IS, Matesi G, Chen S, Ronco A, Marker KM, Hall JR, Scherenberg R, Khajeh-Sharafabadi M, Wu Y, Gignoux CR, Null M, Hendricks AE. Arriaga-MacKenzie IS, et al. Among authors: gignoux cr. Am J Hum Genet. 2021 Jul 1;108(7):1270-1282. doi: 10.1016/j.ajhg.2021.05.016. Epub 2021 Jun 21. Am J Hum Genet. 2021. PMID: 34157305 Free PMC article.
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data.
Wainschtein P, Jain D, Zheng Z; TOPMed Anthropometry Working Group; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Cupples LA, Shadyab AH, McKnight B, Shoemaker BM, Mitchell BD, Psaty BM, Kooperberg C, Liu CT, Albert CM, Roden D, Chasman DI, Darbar D, Lloyd-Jones DM, Arnett DK, Regan EA, Boerwinkle E, Rotter JI, O'Connell JR, Yanek LR, de Andrade M, Allison MA, McDonald MN, Chung MK, Fornage M, Chami N, Smith NL, Ellinor PT, Vasan RS, Mathias RA, Loos RJF, Rich SS, Lubitz SA, Heckbert SR, Redline S, Guo X, Chen Y-I, Laurie CA, Hernandez RD, McGarvey ST, Goddard ME, Laurie CC, North KE, Lange LA, Weir BS, Yengo L, Yang J, Visscher PM. Wainschtein P, et al. Nat Genet. 2022 Mar;54(3):263-273. doi: 10.1038/s41588-021-00997-7. Epub 2022 Mar 7. Nat Genet. 2022. PMID: 35256806 Free PMC article.
Predicted gene expression in ancestrally diverse populations leads to discovery of susceptibility loci for lifestyle and cardiometabolic traits.
Highland HM, Wojcik GL, Graff M, Nishimura KK, Hodonsky CJ, Baldassari AR, Cote AC, Cheng I, Gignoux CR, Tao R, Li Y, Boerwinkle E, Fornage M, Haessler J, Hindorff LA, Hu Y, Justice AE, Lin BM, Lin D, Stram DO, Haiman CA, Kooperberg C, Le Marchand L, Matise TC, Kenny EE, Carlson CS, Stahl EA, Avery CL, North KE, Ambite JL, Buyske S, Loos RJ, Peters U, Young KL, Bien SA, Huckins LM. Highland HM, et al. Among authors: gignoux cr. Am J Hum Genet. 2022 Apr 7;109(4):669-679. doi: 10.1016/j.ajhg.2022.02.013. Epub 2022 Mar 8. Am J Hum Genet. 2022. PMID: 35263625 Free PMC article.
Enrichment analyses identify shared associations for 25 quantitative traits in over 600,000 individuals from seven diverse ancestries.
Smith SP, Shahamatdar S, Cheng W, Zhang S, Paik J, Graff M, Haiman C, Matise TC, North KE, Peters U, Kenny E, Gignoux C, Wojcik G, Crawford L, Ramachandran S. Smith SP, et al. Am J Hum Genet. 2022 May 5;109(5):871-884. doi: 10.1016/j.ajhg.2022.03.005. Epub 2022 Mar 28. Am J Hum Genet. 2022. PMID: 35349783 Free PMC article.
Opportunities and challenges for the use of common controls in sequencing studies.
Wojcik GL, Murphy J, Edelson JL, Gignoux CR, Ioannidis AG, Manning A, Rivas MA, Buyske S, Hendricks AE. Wojcik GL, et al. Among authors: gignoux cr. Nat Rev Genet. 2022 Nov;23(11):665-679. doi: 10.1038/s41576-022-00487-4. Epub 2022 May 17. Nat Rev Genet. 2022. PMID: 35581355 Free PMC article. Review.
Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts.
Anwar MY, Graff M, Highland HM, Smit R, Wang Z, Buchanan VL, Young KL, Kenny EE, Fernandez-Rhodes L, Liu S, Assimes T, Garcia DO, Daeeun K, Gignoux CR, Justice AE, Haiman CA, Buyske S, Peters U, Loos RJF, Kooperberg C, North KE. Anwar MY, et al. Among authors: gignoux cr. Hum Genet. 2023 Oct;142(10):1477-1489. doi: 10.1007/s00439-023-02593-7. Epub 2023 Sep 1. Hum Genet. 2023. PMID: 37658231
168 results