Genotype and SNP calling from next-generation sequencing data

Publikation: Bidrag til tidsskriftReviewForskningfagfællebedømt

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.
OriginalsprogEngelsk
TidsskriftNature Reviews. Genetics
Vol/bind12
Udgave nummer6
Sider (fra-til)443-451
Antal sider9
ISSN1471-0056
DOI
StatusUdgivet - 2011

ID: 45422089