A synthetic-diploid benchmark for accurate variant-calling evaluation.

Nat Methods
Authors
Keywords
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
Journal
Nat Methods
Volume
15
Issue
8
Pages
595-597
Date Published
2018 08
ISSN
1548-7105
DOI
10.1038/s41592-018-0054-7
PubMed ID
30013044
PubMed Central ID
PMC6341484
Links
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