Provides a probabilistic tool for the discovery of single nucleotide variants in whole genome shotgun sequencing (WGSS) data. CoNAn-SNV integrates copy number data into a Bayesian mixture model framework by employing a reduced copy number space with six states. Its main goal is to infer single nucleotide variants (SNVs) that overlap copy number alterations. It is built on a method that models the notion that genomic regions of segmental duplication and amplification that generates an extended genotype space.
Department of Molecular Oncology, BC Cancer Agency, Vancouver, BC, Canada; Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC, Canada; Department of Computer Science, University of British Columbia, Vancouver, BC, Canada; Centre for Translational and Applied Genomics, British Columbia Cancer Agency, Vancouver, BC, Canada; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada
CoNAn-SNV funding source(s)
Supported by the Canadian Breast Cancer Foundation and the Canadian Institutes of Health Research University of British Columbia/Simon Fraser University Bioinformatics training program.