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Updated: Feb 7, 2026

Making Gynogenetic Diploid Zebrafish by Early Pressure
Published on: June 30, 2009
A synthetic-diploid benchmark for accurate variant-calling evaluation
Heng Li1, Jonathan M Bloom2, Yossi Farjoun2
1Broad Institute of Harvard and MIT, Cambridge, MA, USA. hengli@broadinstitute.org.
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.
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