Article
JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data.
Bioinformatics (Oxford, England) - 1 Apr 2012
Roth Andrew, Ding Jiarui, Morin Ryan, Crisan Anamaria, Ha Gavin, Giuliany Ryan, Bashashati Ali, Hirst Martin, Turashvili Gulisa, Oloumi Arusha, Marra Marco A, Aparicio Samuel, Shah Sohrab P
Abstract excerpt
MOTIVATION: Identification of somatic single nucleotide variants (SNVs) in tumour genomes is a necessary step in defining the mutational landscapes of cancers. Experimental designs for genome-wide ascertainment of somatic mutations now routinely include next-generation sequencing (NGS) of tumour DNA and matched constitutional DNA from the same individual. This allows investigators to control for germline...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.