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Page 1
The variant call format and VCFtools.
Danecek P, Auton A, Abecasis G, Albers CA, Banks E, DePristo MA, Handsaker RE, Lunter G, Marth GT, Sherry ST, McVean G, Durbin R; 1000 Genomes Project Analysis Group. Danecek P, et al. Bioinformatics. 2011 Aug 1;27(15):2156-8. doi: 10.1093/bioinformatics/btr330. Epub 2011 Jun 7. Bioinformatics. 2011. PMID: 21653522 Free PMC article.
Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification.
de Vries PS, Conomos MP, Singh K, Nicholson CJ, Jain D, Hasbani NR, Jiang W, Lee S, Lino Cardenas CL, Lutz SM, Wong D, Guo X, Yao J, Young EP, Tcheandjieu C, Hilliard AT, Bis JC, Bielak LF, Brown MR, Musharoff S, Clarke SL, Terry JG, Palmer ND, Yanek LR, Xu H, Heard-Costa N, Wessel J, Selvaraj MS, Li RH, Sun X, Turner AW, Stilp AM, Khan A, Newman AB, Rasheed A, Freedman BI, Kral BG, McHugh CP, Hodonsky C, Saleheen D, Herrington DM, Jacobs DR Jr, Nickerson DA, Boerwinkle E, Wang FF, Heiss G, Jun G, Kinney GL, Sigurslid HH, Doddapaneni H, Hall IM, Bensenor IM, Broome J, Crapo JD, Wilson JG, Smith JA, Blangero J, Vargas JD, Mosquera JV, Smith JD, Viaud-Martinez KA, Ryan KA, Young KA, Taylor KD, Lange LA, Emery LS, Bittencourt MS, Budoff MJ, Montasser ME, Yu M, Mahaney MC, Mahamdeh MS, Fornage M, Franceschini N, Lotufo PA, Natarajan P, Wong Q, Mathias RA, Gibbs RA, Do R, Mehran R, Tracy RP, Kim RW, Nelson SC, Damrauer SM, Kardia SLR, Rich SS, Fuster V, Napolioni V, Zhao W, Tian W, Yin X, Min YI, Manning AK, Peloso G, Kelly TN, O'Donnell CJ, Morrison AC, Curran JE, Zapol WM, Bowden DW, Becker LC, Correa A, Mitchell BD, Psaty BM, Carr JJ, Pereira AC, Assimes TL, Stitziel NO, Hoka… See abstract for full author list ➔ de Vries PS, et al. Among authors: musharoff s. Nat Cardiovasc Res. 2023 Dec;2(12):1159-1172. doi: 10.1038/s44161-023-00375-y. Epub 2023 Dec 4. Nat Cardiovasc Res. 2023. PMID: 38817323 Free PMC article.
Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits.
Patel RA, Musharoff SA, Spence JP, Pimentel H, Tcheandjieu C, Mostafavi H, Sinnott-Armstrong N, Clarke SL, Smith CJ; V.A. Million Veteran Program; Durda PP, Taylor KD, Tracy R, Liu Y, Johnson WC, Aguet F, Ardlie KG, Gabriel S, Smith J, Nickerson DA, Rich SS, Rotter JI, Tsao PS, Assimes TL, Pritchard JK. Patel RA, et al. Among authors: musharoff sa. Am J Hum Genet. 2022 Jul 7;109(7):1286-1297. doi: 10.1016/j.ajhg.2022.05.014. Epub 2022 Jun 17. Am J Hum Genet. 2022. PMID: 35716666 Free PMC article.
Distance from sub-Saharan Africa predicts mutational load in diverse human genomes.
Henn BM, Botigué LR, Peischl S, Dupanloup I, Lipatov M, Maples BK, Martin AR, Musharoff S, Cann H, Snyder MP, Excoffier L, Kidd JM, Bustamante CD. Henn BM, et al. Among authors: musharoff s. Proc Natl Acad Sci U S A. 2016 Jan 26;113(4):E440-9. doi: 10.1073/pnas.1510805112. Epub 2015 Dec 28. Proc Natl Acad Sci U S A. 2016. PMID: 26712023 Free PMC article.
A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome.
Mathias RA, Taub MA, Gignoux CR, Fu W, Musharoff S, O'Connor TD, Vergara C, Torgerson DG, Pino-Yanes M, Shringarpure SS, Huang L, Rafaels N, Boorgula MP, Johnston HR, Ortega VE, Levin AM, Song W, Torres R, Padhukasahasram B, Eng C, Mejia-Mejia DA, Ferguson T, Qin ZS, Scott AF, Yazdanbakhsh M, Wilson JG, Marrugo J, Lange LA, Kumar R, Avila PC, Williams LK, Watson H, Ware LB, Olopade C, Olopade O, Oliveira R, Ober C, Nicolae DL, Meyers D, Mayorga A, Knight-Madden J, Hartert T, Hansel NN, Foreman MG, Ford JG, Faruque MU, Dunston GM, Caraballo L, Burchard EG, Bleecker E, Araujo MI, Herrera-Paz EF, Gietzen K, Grus WE, Bamshad M, Bustamante CD, Kenny EE, Hernandez RD, Beaty TH, Ruczinski I, Akey J; CAAPA; Barnes KC. Mathias RA, et al. Among authors: musharoff s. Nat Commun. 2016 Oct 11;7:12522. doi: 10.1038/ncomms12522. Nat Commun. 2016. PMID: 27725671 Free PMC article.
Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations.
Daya M, Rafaels N, Brunetti TM, Chavan S, Levin AM, Shetty A, Gignoux CR, Boorgula MP, Wojcik G, Campbell M, Vergara C, Torgerson DG, Ortega VE, Doumatey A, Johnston HR, Acevedo N, Araujo MI, Avila PC, Belbin G, Bleecker E, Bustamante C, Caraballo L, Cruz A, Dunston GM, Eng C, Faruque MU, Ferguson TS, Figueiredo C, Ford JG, Gan W, Gourraud PA, Hansel NN, Hernandez RD, Herrera-Paz EF, Jiménez S, Kenny EE, Knight-Madden J, Kumar R, Lange LA, Lange EM, Lizee A, Maul P, Maul T, Mayorga A, Meyers D, Nicolae DL, O'Connor TD, Oliveira RR, Olopade CO, Olopade O, Qin ZS, Rotimi C, Vince N, Watson H, Wilks RJ, Wilson JG, Salzberg S, Ober C, Burchard EG, Williams LK, Beaty TH, Taub MA, Ruczinski I, Mathias RA, Barnes KC; CAAPA. Daya M, et al. Nat Commun. 2019 Feb 20;10(1):880. doi: 10.1038/s41467-019-08469-7. Nat Commun. 2019. PMID: 30787307 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: musharoff s. Genome Biol. 2020 Sep 11;21(1):233. doi: 10.1186/s13059-020-02113-0. Genome Biol. 2020. PMID: 32912333 Free PMC article.
Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry.
Kessler MD, Yerges-Armstrong L, Taub MA, Shetty AC, Maloney K, Jeng LJB, Ruczinski I, Levin AM, Williams LK, Beaty TH, Mathias RA, Barnes KC; Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA); O'Connor TD. Kessler MD, et al. Nat Commun. 2016 Oct 11;7:12521. doi: 10.1038/ncomms12521. Nat Commun. 2016. PMID: 27725664 Free PMC article.
16 results