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Protein prediction for trait mapping in diverse populations.
Schubert R, Geoffroy E, Gregga I, Mulford AJ, Aguet F, Ardlie K, Gerszten R, Clish C, Van Den Berg D, Taylor KD, Durda P, Johnson WC, Cornell E, Guo X, Liu Y, Tracy R, Conomos M, Blackwell T, Papanicolaou G, Lappalainen T, Mikhaylova AV, Thornton TA, Cho MH, Gignoux CR, Lange L, Lange E, Rich SS, Rotter JI; NHLBI TOPMed Consortium; Manichaikul A, Im HK, Wheeler HE. Schubert R, et al. Among authors: aguet f. PLoS One. 2022 Feb 24;17(2):e0264341. doi: 10.1371/journal.pone.0264341. eCollection 2022. PLoS One. 2022. PMID: 35202437 Free PMC article.
Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation.
Gamazon ER, Segrè AV, van de Bunt M, Wen X, Xi HS, Hormozdiari F, Ongen H, Konkashbaev A, Derks EM, Aguet F, Quan J; GTEx Consortium; Nicolae DL, Eskin E, Kellis M, Getz G, McCarthy MI, Dermitzakis ET, Cox NJ, Ardlie KG. Gamazon ER, et al. Among authors: aguet f. Nat Genet. 2018 Jul;50(7):956-967. doi: 10.1038/s41588-018-0154-4. Epub 2018 Jun 28. Nat Genet. 2018. PMID: 29955180 Free PMC article.
Scaling computational genomics to millions of individuals with GPUs.
Taylor-Weiner A, Aguet F, Haradhvala NJ, Gosai S, Anand S, Kim J, Ardlie K, Van Allen EM, Getz G. Taylor-Weiner A, et al. Among authors: aguet f. Genome Biol. 2019 Nov 1;20(1):228. doi: 10.1186/s13059-019-1836-7. Genome Biol. 2019. PMID: 31675989 Free PMC article.
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; O'Connor TD. Kessler MD, et al. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569. doi: 10.1073/pnas.1902766117. Epub 2020 Jan 21. Proc Natl Acad Sci U S A. 2020. PMID: 31964835 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.
A vast resource of allelic expression data spanning human tissues.
Castel SE, Aguet F, Mohammadi P; GTEx Consortium; Ardlie KG, Lappalainen T. Castel SE, et al. Among authors: aguet f. Genome Biol. 2020 Sep 11;21(1):234. doi: 10.1186/s13059-020-02122-z. Genome Biol. 2020. PMID: 32912332 Free PMC article.
Impact of admixture and ancestry on eQTL analysis and GWAS colocalization in GTEx.
Gay NR, Gloudemans M, Antonio ML, Abell NS, Balliu B, Park Y, Martin AR, Musharoff S, Rao AS, Aguet F, Barbeira AN, Bonazzola R, Hormozdiari F; GTEx Consortium; Ardlie KG, Brown CD, Im HK, Lappalainen T, Wen X, Montgomery SB. Gay NR, et al. Among authors: aguet f. Genome Biol. 2020 Sep 11;21(1):233. doi: 10.1186/s13059-020-02113-0. Genome Biol. 2020. PMID: 32912333 Free PMC article.
158 results