A synthetic-diploid benchmark for accurate variant-calling evaluation.

ABSTRACT: Existing benchmark datasets for use in evaluating variant-calling accuracy are constructed from a consensus of known short-variant callers, and they are thus biased toward easy regions that are accessible by these algorithms. We derived a new benchmark dataset from the de novo PacBio assemblies of two fully homozygous human cell lines, which provides a relatively more accurate and less biased estimate of small-variant-calling error rates in a realistic context.

SUBMITTER: Li H 

PROVIDER: S-EPMC6341484 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature