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Status: Unchecked ×Keyword: missense mutations ×Clear all

2 claims from 1 paper

1. Biochemistry, Genetics and Molecular Biology › Genomics and Rare Diseases

   Variant effect predictor correlation with functional assays is reflective of clinical classification performance

   Livesey and Marsh · Genome biology · 2025

   The authors benchmarked 97 variant effect predictors against deep mutational scanning data from 36 human proteins and compared the results with performance in classifying clinical variants.

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   1. UncheckedHow well variant effect predictors match lab-measured DMS results tracks how well they classify clinical variants, most clearly for those not trained on clinical data.“We observe a strong correspondence between VEP performance in DMS-based benchmarks and clinical variant classification, especially for predictors that have not been directly trained on human clinical variants.”
   2. UncheckedRanking variant effect predictors by how well they match lab assays may reliably indicate how well they classify clinical variants, per these authors.“Our results suggest that comparing VEP performance against diverse functional assays represents a reliable strategy for assessing their relative performance in clinical variant classification.”