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Page 1
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.
NCBI's Database of Genotypes and Phenotypes: dbGaP.
Tryka KA, Hao L, Sturcke A, Jin Y, Wang ZY, Ziyabari L, Lee M, Popova N, Sharopova N, Kimura M, Feolo M. Tryka KA, et al. Among authors: hao l. Nucleic Acids Res. 2014 Jan;42(Database issue):D975-9. doi: 10.1093/nar/gkt1211. Epub 2013 Dec 1. Nucleic Acids Res. 2014. PMID: 24297256 Free PMC article.
The NCBI dbGaP database of genotypes and phenotypes.
Mailman MD, Feolo M, Jin Y, Kimura M, Tryka K, Bagoutdinov R, Hao L, Kiang A, Paschall J, Phan L, Popova N, Pretel S, Ziyabari L, Lee M, Shao Y, Wang ZY, Sirotkin K, Ward M, Kholodov M, Zbicz K, Beck J, Kimelman M, Shevelev S, Preuss D, Yaschenko E, Graeff A, Ostell J, Sherry ST. Mailman MD, et al. Among authors: hao l. Nat Genet. 2007 Oct;39(10):1181-6. doi: 10.1038/ng1007-1181. Nat Genet. 2007. PMID: 17898773 Free PMC article.
CDD: a conserved domain database for interactive domain family analysis.
Marchler-Bauer A, Anderson JB, Derbyshire MK, DeWeese-Scott C, Gonzales NR, Gwadz M, Hao L, He S, Hurwitz DI, Jackson JD, Ke Z, Krylov D, Lanczycki CJ, Liebert CA, Liu C, Lu F, Lu S, Marchler GH, Mullokandov M, Song JS, Thanki N, Yamashita RA, Yin JJ, Zhang D, Bryant SH. Marchler-Bauer A, et al. Among authors: hao l. Nucleic Acids Res. 2007 Jan;35(Database issue):D237-40. doi: 10.1093/nar/gkl951. Epub 2006 Nov 29. Nucleic Acids Res. 2007. PMID: 17135202 Free PMC article.