Assigning credit where it is due: an information content score to capture the clinical value of multiplexed assays of variant effect.

ABSTRACT:

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 utility is that it underrepresents the information gained from MAVEs. The aim of this study was to develop an improved quantification metric for MAVE utility. We propose adopting an information content approach that includes data that does not reclassify variants will better reflect true information gain. We adopted an information content approach to evaluate the information gain

SUBMITTER: Ranola JMO 

PROVIDER: S-EPMC11380199 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature