PRESCOTT: a population aware, epistatic, and structural model accurately predicts missense effects

Abstract Predicting the functional impact of point mutations is a critical challenge in genomics. PRESCOTT reconstructs complete mutational landscapes, identifies mutation-sensitive regions, and categorizes missense variants as benign, pathogenic, or variants of uncertain significance. Leveraging pr...

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Bibliographic Details
Main Authors: Mustafa Tekpinar, Laurent David, Thomas Henry, Alessandra Carbone
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Genome Biology
Online Access:https://doi.org/10.1186/s13059-025-03581-y
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