PT  - JOURNAL ARTICLE
AU  - Li, Heng
AU  - Bloom, Jonathan M
AU  - Farjoun, Yossi
AU  - Fleharty, Mark
AU  - Gauthier, Laura
AU  - Neale, Benjamin
AU  - MacArthur, Daniel
TI  - New synthetic-diploid benchmark for accurate variant calling evaluation
AID  - 10.1101/223297
DP  - 2017 Jan 01
TA  - bioRxiv
PG  - 223297
4099  - http://biorxiv.org/content/early/2017/11/22/223297.short
4100  - http://biorxiv.org/content/early/2017/11/22/223297.full
AB  - Constructed from the consensus of multiple variant callers based on short-read data, existing benchmark datasets for evaluating variant calling accuracy are biased toward easy regions accessible by known algorithms. We derived a new benchmark dataset from the de novo PacBio assemblies of two human cell lines that are homozygous across the whole genome. This benchmark provides a more accurate and less biased estimate of the error rate of small variant calls in a realistic context.