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Page 1
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. Among authors: macarthur dg. Science. 2013 Oct 4;342(6154):1235587. doi: 10.1126/science.1235587. Science. 2013. PMID: 24092746 Free PMC article.
HI: haplotype improver using paired-end short reads.
Long Q, MacArthur D, Ning Z, Tyler-Smith C. Long Q, et al. Bioinformatics. 2009 Sep 15;25(18):2436-7. doi: 10.1093/bioinformatics/btp412. Epub 2009 Jul 1. Bioinformatics. 2009. PMID: 19570807 Free PMC article.
The promise and reality of personal genomics.
Yngvadottir B, Macarthur DG, Jin H, Tyler-Smith C. Yngvadottir B, et al. Among authors: macarthur dg. Genome Biol. 2009;10(9):237. doi: 10.1186/gb-2009-10-9-237. Epub 2009 Sep 2. Genome Biol. 2009. PMID: 19723346 Free PMC article. Review.
Origins and functional impact of copy number variation in the human genome.
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J; Wellcome Trust Case Control Consortium; Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME. Conrad DF, et al. Among authors: macarthur dg. Nature. 2010 Apr 1;464(7289):704-12. doi: 10.1038/nature08516. Epub 2009 Oct 7. Nature. 2010. PMID: 19812545 Free PMC article.
Dindel: accurate indel calls from short-read data.
Albers CA, Lunter G, MacArthur DG, McVean G, Ouwehand WH, Durbin R. Albers CA, et al. Among authors: macarthur dg. Genome Res. 2011 Jun;21(6):961-73. doi: 10.1101/gr.112326.110. Epub 2010 Oct 27. Genome Res. 2011. PMID: 20980555 Free PMC article.
A map of human genome variation from population-scale sequencing.
1000 Genomes Project Consortium; Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. 1000 Genomes Project Consortium, et al. Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Nature. 2010. PMID: 20981092 Free PMC article.
270 results