CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

What is it about?

Genetic diseases are caused by mutations in genes. One such mutation is the copy number variation (CNV), which means that part of the genome is present less or more than normal. We have developed CoNVaDING, a tool to detect such CNVs in targeted next-generation sequencing data.

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Why is it important?

CoNVaDING includes a stringent quality control (QC) metric, that excludes or flags low-quality exons. This QC shows exactly which exons can be reliably analyzed and which exons are in need of an alternative analysis method. During the validation phase, CoNVaDING detected all known CNVs in high-quality targets in 320 samples analyzed.