Article
BAYSIC: a Bayesian method for combining sets of genome variants with improved specificity and sensitivity.
BMC bioinformatics - 12 Apr 2014
Cantarel Brandi L, Weaver Daniel, McNeill Nathan, Zhang Jianhua, Mackey Aaron J, Reese Justin
Abstract excerpt
BACKGROUND: Accurate genomic variant detection is an essential step in gleaning medically useful information from genome data. However, low concordance among variant-calling methods reduces confidence in the clinical validity of whole genome and exome sequence data, and confounds downstream analysis for applications in genome medicine.Here we describe BAYSIC (BAYeSian Integrated Caller), which combines SNP...
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