Somatic copy number variations, or CNVs, are frequent occurrences in the tumor landscape and thedetection of these events remains a challenge.
Whole-exome sequencing is a cost-effective way of detecting clinicallyrelevant small variants with high sensitivity.
We present CNVThresher, a tool that annotates CNV detec3ons in WGS data with metrics designed to reflect the level of evidence present in the aligned reads, in support of each CNV call.
There were many changes to GRCh38 relative to GRCh37.
GRCh38 was released in December of 2013 and represents over four years of curation to improve errors and add missing sequence.
Robust gene representation in the reference assembly is a critical aspect for analyzing whole genome and whole exome data.
