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

Specialty Areas:
Date: June 26, 2023
Authors:
Ahmad Abou Tayoun, Alicia B. Byrne, Anne O’Donnell-Luria, Bing-Jian Feng, Garry Cutting, Heidi L. Rehm, Izabela Karbassi, Jessica Mester, Jonathan S. Berg, Kymberleigh A Pagel, Leslie G. Biesecker, Marc S Greenblatt, Natasha Strande, Peter Kang, Predrag Radivojac, Rachel Karchin, Scott Topper, Sean D Mooney, Sean Tavtigian, Sean V. Tavtigian, Sharon E. Plon, Sian Ellard, Steven E. Brenner, Steven M. Harrison, Tina Pesaran, MA, MS, CGC, Vikas Pejaver
Journal: American Journal of Human Genetics
Journal Volume: 109