76. Goals, methods and challenges in a clinical validation of a NGS-based platform for the detection of constitutional CNVs

DNA microarrays are used in our institution since 2011 to evaluate copy number variants (CNVs) in both constitutional (prenatal and postnatal) and oncology applications. We are currently validating a NGS-based platform from the company OGT to replace our arrays in constitutional applications.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research