RT Journal Article
SR Electronic
T1 New synthetic-diploid benchmark for accurate variant calling evaluation
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 223297
DO 10.1101/223297
A1 Li, Heng
A1 Bloom, Jonathan M
A1 Farjoun, Yossi
A1 Fleharty, Mark
A1 Gauthier, Laura
A1 Neale, Benjamin
A1 MacArthur, Daniel
YR 2017
UL http://biorxiv.org/content/early/2017/11/22/223297.abstract
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.