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Page 1
Challenges of sequencing human genomes.
Koboldt DC, Ding L, Mardis ER, Wilson RK. Koboldt DC, et al. Brief Bioinform. 2010 Sep;11(5):484-98. doi: 10.1093/bib/bbq016. Epub 2010 Jun 2. Brief Bioinform. 2010. PMID: 20519329 Free PMC article. Review.
Diversity of human copy number variation and multicopy genes.
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project; Eichler EE. Sudmant PH, et al. Science. 2010 Oct 29;330(6004):641-6. doi: 10.1126/science.1197005. Science. 2010. PMID: 21030649 Free PMC article.
The functional spectrum of low-frequency coding variation.
Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV, Cibulskis K, Cooper DN, Fulton B, Hartl C, Koboldt D, Muzny D, Smith R, Sougnez C, Stewart C, Ward A, Yu J, Xue Y, Altshuler D, Bustamante CD, Clark AG, Daly M, DePristo M, Flicek P, Gabriel S, Mardis E, Palotie A, Gibbs R; 1000 Genomes Project. Marth GT, et al. Genome Biol. 2011 Sep 14;12(9):R84. doi: 10.1186/gb-2011-12-9-r84. Genome Biol. 2011. PMID: 21917140 Free PMC article.
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration.
Zhan X, Larson DE, Wang C, Koboldt DC, Sergeev YV, Fulton RS, Fulton LL, Fronick CC, Branham KE, Bragg-Gresham J, Jun G, Hu Y, Kang HM, Liu D, Othman M, Brooks M, Ratnapriya R, Boleda A, Grassmann F, von Strachwitz C, Olson LM, Buitendijk GH, Hofman A, van Duijn CM, Cipriani V, Moore AT, Shahid H, Jiang Y, Conley YP, Morgan DJ, Kim IK, Johnson MP, Cantsilieris S, Richardson AJ, Guymer RH, Luo H, Ouyang H, Licht C, Pluthero FG, Zhang MM, Zhang K, Baird PN, Blangero J, Klein ML, Farrer LA, DeAngelis MM, Weeks DE, Gorin MB, Yates JR, Klaver CC, Pericak-Vance MA, Haines JL, Weber BH, Wilson RK, Heckenlively JR, Chew EY, Stambolian D, Mardis ER, Swaroop A, Abecasis GR. Zhan X, et al. Among authors: koboldt dc. Nat Genet. 2013 Nov;45(11):1375-9. doi: 10.1038/ng.2758. Epub 2013 Sep 15. Nat Genet. 2013. PMID: 24036949 Free PMC article.
140 results