SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data

摘要

BackgroundTargeted next-generation sequencing (NGS) has been widely used as a cost-effective way to identify the genetic basis of human disorders. Copy number variations (CNVs) contribute significantly to human genomic variability, some of which can lead to disease. However, effective detection of CNVs from targeted capture sequencing data remains challenging.