期刊
NATURE METHODS
卷 15, 期 8, 页码 595-+出版社
NATURE PORTFOLIO
DOI: 10.1038/s41592-018-0054-7
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资金
- US National Institutes of Health (NIH) [5U54DK105566-04, 5U01HG009088-03, 1R01HG010040-01]
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.
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