Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project
Emma H. Wilcox, Steven M. Harrison, Edward R. Lockhart, Karl V. Voelkerding, Ira M. Lubin, ClinGen Expert Panels, Heidi L. Rehm, Lisa V. Kalman, Birgit Funke
The paper curates a list of clinically important variants for use in clinical genomic test development and validation.
Journal of Molecular Diagnostics · Aug 9, 2021Peer-reviewedGenetic & Genomic Medicine