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Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL, Meyer E, Copley RR, Rimmer A, Barcia G, Fleming MR, Kronengold J, Brown MR, Hudspith KA, Broxholme J, Kanapin A, Cazier JB, Kinoshita T, Nabbout R; WGS500 Consortium; Bentley D, McVean G, Heavin S, Zaiwalla Z, McShane T, Mefford HC, Shears D, Stewart H, Kurian MA, Scheffer IE, Blair E, Donnelly P, Kaczmarek LK, Taylor JC. Martin HC, et al. Among authors: mcvean g. Hum Mol Genet. 2014 Jun 15;23(12):3200-11. doi: 10.1093/hmg/ddu030. Epub 2014 Jan 25. Hum Mol Genet. 2014. PMID: 24463883 Free PMC article.
The influence of recombination on human genetic diversity.
Spencer CC, Deloukas P, Hunt S, Mullikin J, Myers S, Silverman B, Donnelly P, Bentley D, McVean G. Spencer CC, et al. Among authors: mcvean g. PLoS Genet. 2006 Sep 22;2(9):e148. doi: 10.1371/journal.pgen.0020148. Epub 2006 Jul 31. PLoS Genet. 2006. PMID: 17044736 Free PMC article.
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.
Recombination and population structure in Salmonella enterica.
Didelot X, Bowden R, Street T, Golubchik T, Spencer C, McVean G, Sangal V, Anjum MF, Achtman M, Falush D, Donnelly P. Didelot X, et al. Among authors: mcvean g. PLoS Genet. 2011 Jul;7(7):e1002191. doi: 10.1371/journal.pgen.1002191. Epub 2011 Jul 28. PLoS Genet. 2011. PMID: 21829375 Free PMC article.
A fine-scale chimpanzee genetic map from population sequencing.
Auton A, Fledel-Alon A, Pfeifer S, Venn O, Ségurel L, Street T, Leffler EM, Bowden R, Aneas I, Broxholme J, Humburg P, Iqbal Z, Lunter G, Maller J, Hernandez RD, Melton C, Venkat A, Nobrega MA, Bontrop R, Myers S, Donnelly P, Przeworski M, McVean G. Auton A, et al. Among authors: mcvean g. Science. 2012 Apr 13;336(6078):193-8. doi: 10.1126/science.1216872. Epub 2012 Mar 15. Science. 2012. PMID: 22422862 Free PMC article.
215 results