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

Specialty Areas:
Date: October 10, 2024
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, ClinGen Sequence Variant Interpretation Working Group
Journal: Genetics in Medicine