http://www.nature.com/nrg/journal/v12/n6/pdf/nrg2986.pdf
Abstract
Meaningful analysis of next-generation sequencing (NGS) data, which are
produced extensively by genetics and genomics studies, relies crucially on the accurate
calling of SNPs and genotypes. Recently developed statistical methods both improve
and quantify the considerable uncertainty associated with genotype calling, and will
especially benefit the growing number of studies using low- to medium-coverage data.
We review these methods and provide a guide for their use in NGS studies.
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