A synthetic-diploid benchmark for accurate variant-calling evaluation

作者：Li Heng^*; Bloom Jonathan M; Farjoun Yossi; Fleharty Mark; Gauthier Laura; Neale Benjamin^*; MacArthur Daniel^*

来源：Nature Methods, 2018, 15(8): 595-+.

DOI：10.1038/s41592-018-0054-7

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.

• 出版日期2018-8
• 单位MIT