The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Hunter D. Best, Rhonda C. Brandon, Jillian G. Buchan, Elizabeth Chao, Elaine Y. Chen, Jacob Clifford, Ana S.A. Cohen, Laura Kathleen Conlin, Soma Das, Kyle Davis, Daniela del Gaudio, , Stephen Francis Kingsmore
The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.
Genetics in Medicine · Jul 30, 2023Peer-reviewedGenetic & Genomic Medicine