DNA copy number variations (CNVs) are a well-documented cause of human genetic disease. The detection of CNVs is challenging because analytical solutions must offer exon-level resolution for accurate results.

Whole exome sequencing (WES) is increasingly used to detect rare and common genetic variants in humans. However, larger data sets generated by WES further compound the challenges of CNV detection due to additional noise and biases introduced. For accurate detection of CNVs, a robust and sensitive solution is required.

If you are interested in achieving higher detection rates and providing overall better support for the management of rare inherited diseases, this webinar is for you.