The latest dbVar data release includes the Genome in a Bottle benchmark structural variant (SV) callset (pre-print Zook et al. 2019) – a highly scrutinized, carefully curated set of 12,745 sequence-resolved deletions, insertions, and delins variants from Personal Genome Project Ashkenazi trio son HG002. The data serve as a robust benchmark standard with which to measure the performance of sequencing and variant-calling pipelines. It “reliably identifies both false negatives and false positives in high-quality SV callsets” (pre-print Zook et al. 2019) that are based on short-, linked-, and long-read sequencing as well as optical mapping.
Tag: Genome in a Bottle