Article
A synthetic-diploid benchmark for accurate variant-calling evaluation.
Nature methods - 1 Aug 2018
Li Heng, Bloom Jonathan M, Farjoun Yossi, Fleharty Mark, Gauthier Laura, Neale Benjamin, MacArthur Daniel
Abstract excerpt
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...
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