Accurate detection of small copynumber variants (CNVs) using Agilent exon-proximal region designs and VarSome Clinical analysis tool
Copy Number Variants (CNVs) are deletions or duplications in genomic DNA and represent a major source of variation in the human population. CNVs have been linked to numerous genetic disorders and assessing their importance is a standard part of modern clinical genetics. Although the current methods allow accurate detection of relatively long CNVs, small variants spanning only few exons are still very difficult to identify. Here, we evaluate a solution for the detection of exon-level CNVs by sequencing of Agilent target enrichment libraries followed by analysis in VarSome Clinical.