A synthetic-diploid benchmark for accurate variant-calling evaluation.
Nat Methods
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| 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. |
| Year of Publication | 2018
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| Journal | Nat Methods
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| Volume | 15
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| Issue | 8
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| Pages | 595-597
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| Date Published | 2018 08
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| ISSN | 1548-7105
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| DOI | 10.1038/s41592-018-0054-7
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| PubMed ID | 30013044
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| PubMed Central ID | PMC6341484
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| Grant list | R01 HG010040 / HG / NHGRI NIH HHS / United States
U01 HG009088 / HG / NHGRI NIH HHS / United States
U54 DK105566 / DK / NIDDK NIH HHS / United States
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