Article

New synthetic-diploid benchmark for accurate variant calling evaluation

2017-11-22

Abstract excerpt

Constructed from the consensus of multiple variant callers based on short-read data, existing benchmark datasets for evaluating variant calling accuracy are biased toward easy regions accessible by known algorithms. We derived a new benchmark dataset from the de novo PacBio assemblies of two human cell lines that are homozygous across the whole genome. This benchmark provides a more accurate and less biased estim...

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Identifiers and source

Literature Corpus work: f6ccc591-336b-52ff-9eb7-20d5c656b530
DOI: 10.1101/223297

Open publication

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