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Page 1
Evolutionary history of modern Samoans.
Harris DN, Kessler MD, Shetty AC, Weeks DE, Minster RL, Browning S, Cochrane EE, Deka R, Hawley NL, Reupena MS, Naseri T; Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; McGarvey ST, O'Connor TD. Harris DN, et al. Proc Natl Acad Sci U S A. 2020 Apr 28;117(17):9458-9465. doi: 10.1073/pnas.1913157117. Epub 2020 Apr 14. Proc Natl Acad Sci U S A. 2020. PMID: 32291332 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.
Population sequencing data reveal a compendium of mutational processes in the human germ line.
Seplyarskiy VB, Soldatov RA, Koch E, McGinty RJ, Goldmann JM, Hernandez RD, Barnes K, Correa A, Burchard EG, Ellinor PT, McGarvey ST, Mitchell BD, Vasan RS, Redline S, Silverman E, Weiss ST, Arnett DK, Blangero J, Boerwinkle E, He J, Montgomery C, Rao DC, Rotter JI, Taylor KD, Brody JA, Chen YI, de Las Fuentes L, Hwu CM, Rich SS, Manichaikul AW, Mychaleckyj JC, Palmer ND, Smith JA, Kardia SLR, Peyser PA, Bielak LF, O'Connor TD, Emery LS; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; Gilissen C, Wong WSW, Kharchenko PV, Sunyaev S. Seplyarskiy VB, et al. Science. 2021 Aug 27;373(6558):1030-1035. doi: 10.1126/science.aba7408. Epub 2021 Aug 12. Science. 2021. PMID: 34385354 Free PMC article.