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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.
Integrative annotation of variants from 1092 humans: application to cancer genomics.
Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüş ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GRS, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F; 1000 Genomes Project Consortium; Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M. Khurana E, et al. Science. 2013 Oct 4;342(6154):1235587. doi: 10.1126/science.1235587. Science. 2013. PMID: 24092746 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
BCFtools/csq: haplotype-aware variant consequences.
Danecek P, McCarthy SA. Danecek P, et al. Bioinformatics. 2017 Jul 1;33(13):2037-2039. doi: 10.1093/bioinformatics/btx100. Bioinformatics. 2017. PMID: 28205675 Free PMC article.
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.
Mapping copy number variation by population-scale genome sequencing.
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stütz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO; 1000 Genomes Project. Mills RE, et al. Nature. 2011 Feb 3;470(7332):59-65. doi: 10.1038/nature09708. Nature. 2011. PMID: 21293372 Free PMC article.
An integrated map of genetic variation from 1,092 human genomes.
1000 Genomes Project Consortium; Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. 1000 Genomes Project Consortium, et al. Nature. 2012 Nov 1;491(7422):56-65. doi: 10.1038/nature11632. Nature. 2012. PMID: 23128226 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.
68 results