Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria

• DOI: 10.1016/j.gim.2025.101402
• Publication Date: 2025-03-10T16:28:21Z
• Authors: Timothy Bergquist; Sarah L. Stenton; Emily A.W. Nadeau; Alicia B. Byrne; Marc S. Greenblatt; Steven M. Harrison; Sean V. Tavtigian; Anne O'Donnell-Luria; Leslie G. Biesecker; Predrag Radivojac; Steven E. Brenner; Vikas Pejaver; Ahmad A. Tayoun; Anne O’Donnell-Luria; Garry R. Cutting; Heidi L. Rehm; Izabela Karbassi; Jessica Mester; Jonathan S. Berg; Leslie G. Biesecker; Marc S. Greenblatt; Natasha T. Strande; Peter Kang; Rachel Karchin; Scott Topper; Sean V. Tavtigian; Sharon E. Plon; Sian Ellard; Steven E. Brenner; Steven M. Harrison; Tina Pesaran
• Keywords: Univariate