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HAPGEN2: simulation of multiple disease SNPs.
Su Z, Marchini J, Donnelly P. Su Z, et al. Among authors: marchini j. Bioinformatics. 2011 Aug 15;27(16):2304-5. doi: 10.1093/bioinformatics/btr341. Epub 2011 Jun 8. Bioinformatics. 2011. PMID: 21653516 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.
Joint genotype calling with array and sequence data.
O'Connell J, Marchini J. O'Connell J, et al. Among authors: marchini j. Genet Epidemiol. 2012 Sep;36(6):527-37. doi: 10.1002/gepi.21657. Epub 2012 Jul 20. Genet Epidemiol. 2012. PMID: 22821426
Haplotype estimation using sequencing reads.
Delaneau O, Howie B, Cox AJ, Zagury JF, Marchini J. Delaneau O, et al. Among authors: marchini j. Am J Hum Genet. 2013 Oct 3;93(4):687-96. doi: 10.1016/j.ajhg.2013.09.002. Am J Hum Genet. 2013. PMID: 24094745 Free PMC article.
A general approach for haplotype phasing across the full spectrum of relatedness.
O'Connell J, Gurdasani D, Delaneau O, Pirastu N, Ulivi S, Cocca M, Traglia M, Huang J, Huffman JE, Rudan I, McQuillan R, Fraser RM, Campbell H, Polasek O, Asiki G, Ekoru K, Hayward C, Wright AF, Vitart V, Navarro P, Zagury JF, Wilson JF, Toniolo D, Gasparini P, Soranzo N, Sandhu MS, Marchini J. O'Connell J, et al. Among authors: marchini j. PLoS Genet. 2014 Apr 17;10(4):e1004234. doi: 10.1371/journal.pgen.1004234. eCollection 2014 Apr. PLoS Genet. 2014. PMID: 24743097 Free PMC article.
415 results