Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation

Modern genomic sequencing tests often interrogate large numbers of genes. Identification of appropriate reference materials for development, validation studies, and quality assurance of these tests poses a significant challenge for laboratories. It is difficult to develop and maintain expert knowledge to identify all variants that must be validated to ensure analytic and clinical validity. Additionally, it is usually not possible to procure appropriate and characterized genomic DNA reference materials containing the number and scope of variants required.

Source: Journal of Molecular Diagnostics - August 8, 2021 Category: Pathology Authors: Emma Wilcox, Steven M. Harrison, Edward Lockhart, Karl Voelkerding, Ira M. Lubin, ClinGen Expert Panels, Heidi L. Rehm, Lisa Kalman, Birgit Funke Tags: Regular article Source Type: research