Genotype and SNP calling from next-generation sequencing data

Research output: Contribution to journalReviewResearchpeer-review

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.
Original languageEnglish
JournalNature Reviews. Genetics
Volume12
Issue number6
Pages (from-to)443-451
Number of pages9
ISSN1471-0056
DOIs
Publication statusPublished - 2011

    Research areas

  • Alleles, Chromosome Mapping, Data Interpretation, Statistical, Genetic Diseases, Inborn, Genotype, Humans, Likelihood Functions, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Probability, Sequence Analysis, DNA

ID: 45422089