CNV Calling for Exomes with Congenica
Download the whitepaper to learn more about the development, validation and analytical performance of a new copy-number variant (CNV) Calling module released as part of the Congenica clinical decision support platform.
- Detect intergenic and intragenic deletions and duplications associated with genetic disorders
- Detect CNVs with sizes spanning from just a few exons up to runs of multiple contiguous genes
- Achieve consistently high precision (100%) and recall (96%)