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Page 1
Response to Giem.
Haber M, Doumet-Serhal C, Scheib C, Xue Y, Danecek P, Mezzavilla M, Youhanna S, Martiniano R, Prado-Martinez J, Szpak M, Matisoo-Smith E, Schutkowski H, Mikulski R, Zalloua P, Kivisild T, Tyler-Smith C. Haber M, et al. Among authors: danecek p. Am J Hum Genet. 2018 Feb 1;102(2):331. doi: 10.1016/j.ajhg.2018.01.002. Am J Hum Genet. 2018. PMID: 29395077 Free PMC article. No abstract available.
Variation in genome-wide mutation rates within and between human families.
Conrad DF, Keebler JE, DePristo MA, Lindsay SJ, Zhang Y, Casals F, Idaghdour Y, Hartl CL, Torroja C, Garimella KV, Zilversmit M, Cartwright R, Rouleau GA, Daly M, Stone EA, Hurles ME, Awadalla P; 1000 Genomes Project. Conrad DF, et al. Nat Genet. 2011 Jun 12;43(7):712-4. doi: 10.1038/ng.862. Nat Genet. 2011. PMID: 21666693 Free PMC article.
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium; Lin YY, Muntoni F. Carss KJ, et al. Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13. Am J Hum Genet. 2013. PMID: 23768512 Free PMC article.
Tracing the route of modern humans out of Africa by using 225 human genome sequences from Ethiopians and Egyptians.
Pagani L, Schiffels S, Gurdasani D, Danecek P, Scally A, Chen Y, Xue Y, Haber M, Ekong R, Oljira T, Mekonnen E, Luiselli D, Bradman N, Bekele E, Zalloua P, Durbin R, Kivisild T, Tyler-Smith C. Pagani L, et al. Among authors: danecek p. Am J Hum Genet. 2015 Jun 4;96(6):986-91. doi: 10.1016/j.ajhg.2015.04.019. Epub 2015 May 28. Am J Hum Genet. 2015. PMID: 26027499 Free PMC article.
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
Tachmazidou I, Süveges D, Min JL, Ritchie GRS, Steinberg J, Walter K, Iotchkova V, Schwartzentruber J, Huang J, Memari Y, McCarthy S, Crawford AA, Bombieri C, Cocca M, Farmaki AE, Gaunt TR, Jousilahti P, Kooijman MN, Lehne B, Malerba G, Männistö S, Matchan A, Medina-Gomez C, Metrustry SJ, Nag A, Ntalla I, Paternoster L, Rayner NW, Sala C, Scott WR, Shihab HA, Southam L, St Pourcain B, Traglia M, Trajanoska K, Zaza G, Zhang W, Artigas MS, Bansal N, Benn M, Chen Z, Danecek P, Lin WY, Locke A, Luan J, Manning AK, Mulas A, Sidore C, Tybjaerg-Hansen A, Varbo A, Zoledziewska M, Finan C, Hatzikotoulas K, Hendricks AE, Kemp JP, Moayyeri A, Panoutsopoulou K, Szpak M, Wilson SG, Boehnke M, Cucca F, Di Angelantonio E, Langenberg C, Lindgren C, McCarthy MI, Morris AP, Nordestgaard BG, Scott RA, Tobin MD, Wareham NJ; SpiroMeta Consortium; GoT2D Consortium; Burton P, Chambers JC, Smith GD, Dedoussis G, Felix JF, Franco OH, Gambaro G, Gasparini P, Hammond CJ, Hofman A, Jaddoe VWV, Kleber M, Kooner JS, Perola M, Relton C, Ring SM, Rivadeneira F, Salomaa V, Spector TD, Stegle O, Toniolo D, Uitterlinden AG; arcOGEN Consortium; Understanding Society Scientific Group; UK10K Consortium; Barroso… See abstract for full author list ➔ Tachmazidou I, et al. Among authors: danecek p. Am J Hum Genet. 2017 Jun 1;100(6):865-884. doi: 10.1016/j.ajhg.2017.04.014. Epub 2017 May 25. Am J Hum Genet. 2017. PMID: 28552196 Free PMC article.
Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences.
Haber M, Doumet-Serhal C, Scheib C, Xue Y, Danecek P, Mezzavilla M, Youhanna S, Martiniano R, Prado-Martinez J, Szpak M, Matisoo-Smith E, Schutkowski H, Mikulski R, Zalloua P, Kivisild T, Tyler-Smith C. Haber M, et al. Among authors: danecek p. Am J Hum Genet. 2017 Aug 3;101(2):274-282. doi: 10.1016/j.ajhg.2017.06.013. Epub 2017 Jul 27. Am J Hum Genet. 2017. PMID: 28757201 Free PMC article.
Ancient human parallel lineages within North America contributed to a coastal expansion.
Scheib CL, Li H, Desai T, Link V, Kendall C, Dewar G, Griffith PW, Mörseburg A, Johnson JR, Potter A, Kerr SL, Endicott P, Lindo J, Haber M, Xue Y, Tyler-Smith C, Sandhu MS, Lorenz JG, Randall TD, Faltyskova Z, Pagani L, Danecek P, O'Connell TC, Martz P, Boraas AS, Byrd BF, Leventhal A, Cambra R, Williamson R, Lesage L, Holguin B, Ygnacio-De Soto E, Rosas J, Metspalu M, Stock JT, Manica A, Scally A, Wegmann D, Malhi RS, Kivisild T. Scheib CL, et al. Among authors: danecek p. Science. 2018 Jun 1;360(6392):1024-1027. doi: 10.1126/science.aar6851. Science. 2018. PMID: 29853687
Insights into human genetic variation and population history from 929 diverse genomes.
Bergström A, McCarthy SA, Hui R, Almarri MA, Ayub Q, Danecek P, Chen Y, Felkel S, Hallast P, Kamm J, Blanché H, Deleuze JF, Cann H, Mallick S, Reich D, Sandhu MS, Skoglund P, Scally A, Xue Y, Durbin R, Tyler-Smith C. Bergström A, et al. Among authors: danecek p. Science. 2020 Mar 20;367(6484):eaay5012. doi: 10.1126/science.aay5012. Science. 2020. PMID: 32193295 Free PMC article.
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.
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