Article
Assigning credit where it is due: an information content score to capture the clinical value of multiplexed assays of variant effect.
BMC bioinformatics - 6 Sept 2024
Ranola John Michael O, Horton Carolyn, Pesaran Tina, Fayer Shawn, Starita Lea M, Shirts Brian H
Abstract excerpt
BACKGROUND: A variant can be pathogenic or benign with relation to a human disease. Current classification categories from benign to pathogenic reflect a probabilistic summary of the current understanding. A primary metric of clinical utility for multiplexed assays of variant effect (MAVE) is the number of variants that can be reclassified from uncertain significance (VUS). However, a gap in this measure of...
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