Home > Technical section > Bioinformatics > variant analysis
variant analysis
Sunday 30 December 2012
variant-calling pipelines; variant-calling
Videos
Variant analysis by Ingenuity
See also
variant-calling softwares variant call
Open references
FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets. Pope BJ, Nguyen-Dumont T, Odefrey F, Hammet F, Bell R, Tao K, Tavtigian SV, Goldgar DE, Lonie A, Southey MC, Park DJ. BMC Bioinformatics. 2013 Feb 25;14:65. doi: 10.1186/1471-2105-14-65 . PMID: #23441864# [Free]
Computational and bioinformatics frameworks for next-generation whole exome and genome sequencing. Dolled-Filhart MP, Lee M Jr, Ou-Yang CW, Haraksingh RR, Lin JC. ScientificWorldJournal. 2013;2013:730210. doi: 10.1155/2013/730210 . PMID: #23365548# [Free]
A likelihood-based framework for variant calling and de novo mutation detection in families. Li B, Chen W, Zhan X, Busonero F, Sanna S, Sidore C, Cucca F, Kang HM, Abecasis GR. PLoS Genet. 2012;8(10):e1002944. doi: 10.1371/journal.pgen.1002944 . PMID: #23055937# [Free]
