JointSNVMix implements a probabilistic graphical model to analyse sequence data from tumour/normal pairs. The model draws statistical strength by analysing both genome jointly to more accurately classify germline and somatic mutations.The JointSnvMix software package consists of a number of tools for calling somatic mutations in tumour/normal paired NGS data.
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Bioinformatics. 2012 Apr 1;28(7):907-13. doi: 10.1093/bioinformatics/bts053. Epub 2012 Jan 27.
JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data.
Roth A1, Ding J, Morin R, Crisan A, Ha G, Giuliany R, Bashashati A, Hirst M, Turashvili G, Oloumi A, Marra MA, Aparicio S, Shah SP.