Article
SNVMix: predicting single nucleotide variants from next-generation sequencing of tumors.
Bioinformatics (Oxford, England) - 15 Mar 2010
Goya Rodrigo, Sun Mark G F, Morin Ryan D, Leung Gillian, Ha Gavin, Wiegand Kimberley C, Senz Janine, Crisan Anamaria, Marra Marco A, Hirst Martin, Huntsman David, Murphy Kevin P, Aparicio Sam, Shah Sohrab P
Abstract excerpt
MOTIVATION: Next-generation sequencing (NGS) has enabled whole genome and transcriptome single nucleotide variant (SNV) discovery in cancer. NGS produces millions of short sequence reads that, once aligned to a reference genome sequence, can be interpreted for the presence of SNVs. Although tools exist for SNV discovery from NGS data, none are specifically suited to work with data from tumors, where altered...
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