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variant call

Friday 5 April 2013

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]