Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
Sarah L. Stenton, Vikas Rao Pejaver, Timothy R. Bergquist, Leslie G. Biesecker, Alicia B. Byrne, Emily A.W. Nadeau, Marc S. Greenblatt, Steven M. Harrison, Sean V. Tavtigian, Predrag Radivojac A, Steven E. Brenner, Anne O’Donnell‐Luria, Ahmad A. Tayoun, Jonathan S. Berg, Garry R. Cutting, , Scott Topper
The paper assesses rare missense variants in genome sequences using PP3/BP4 evidence strength classifications and finds few variants meet strong or moderate criteria.
Genetics in Medicine · Jul 24, 2024Peer-reviewedGenetic & Genomic Medicine