Jointly benchmarking small and structural variant calls with vcfdist.

Abstract excerpt

In this work, we extend vcfdist to be the first variant call benchmarking tool to jointly evaluate phased single-nucleotide polymorphisms (SNPs), small insertions/deletions (INDELs), and structural variants (SVs) for the whole genome. First, we find that a joint evaluation of small and structural variants uniformly reduces measured errors for SNPs (- 28.9%), INDELs (- 19.3%), and SVs (- 52.4%) across three...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Polymorphism, Single Nucleotide
• Share to Software
• Share to INDEL Mutation