A synthetic-diploid benchmark for accurate variant-calling evaluation
A synthetic-diploid benchmark for accurate variant-calling evaluation
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Publisher
New York: Nature Publishing Group US
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Language
English
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Publisher
New York: Nature Publishing Group US
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Contents
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 provid...
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Full title
A synthetic-diploid benchmark for accurate variant-calling evaluation
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6341484
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6341484
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ISSN
1548-7091
E-ISSN
1548-7105
DOI
10.1038/s41592-018-0054-7
