Article
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2025
Bergquist Timothy, Stenton Sarah L, Nadeau Emily A W, Byrne Alicia B, Greenblatt Marc S, Harrison Steven M, Tavtigian Sean V, O'Donnell-Luria Anne, Biesecker Leslie G, Radivojac Predrag, Brenner Steven E, Pejaver Vikas
Abstract excerpt
PURPOSE: We previously developed an approach to calibrate computational tools for clinical variant classification, updating recommendations for the reliable use of variant impact predictors to provide evidence strength up to Strong. A new generation of tools using distinctive approaches has since been released, and these methods must be independently calibrated for clinical application. METHODS: Using our local...
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