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Updated: Jun 1, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Genotype and SNP calling from next-generation sequencing data
Rasmus Nielsen1, Joshua S Paul, Anders Albrechtsen
1Department of Integrative Biology, University of California, Berkeley, CA 94720, USA. rasmus_nielsen@berkeley.edu
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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