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

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Date: June 26, 2023
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, Ahmad Abou Tayoun, Jonathan S. Berg, Steven E. Brenner, Garry Cutting, Sian Ellard, Peter Kang, Izabela Karbassi, Jessica Mester, Tina Pesaran, MA, MS, CGC, Sharon E. Plon, Heidi L. Rehm, Natasha Strande, Sean Tavtigian, Scott Topper
Journal: American Journal of Human Genetics
Journal Volume: 109