Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

We developed an approach to calibrate computational predictors to the American College of Medical Genetics and Genomics and Association for Molecular Pathology guidelines for clinical variant classification. We observed that predictors can provide much stronger evidence for variant pathogenicity/benignity than previously thought and propose updated recommendations for their clinical use.

Source: The American Journal of Human Genetics - November 21, 2022 Category: Genetics & Stem Cells Authors: Vikas Pejaver, Alicia B. Byrne, Bing-Jian Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin, Anne O ’Donnell-Luria, Steven M. Harrison, Sean V. Tavtigian, Marc S. Greenblatt, Leslie G. Biesecker, Predrag Radivojac, Steven E. Brenner, ClinGen Se Tags: Article Source Type: research