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%)


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