Article

Disagreement among variant effect predictors guides experimental prioritization of target proteins

2026-03-20

Abstract excerpt

Interpreting the functional consequences of genetic variation, especially rare missense variants, remains a significant challenge in human genetics. Computational variant effect predictors (VEPs) and multiplexed assays of variant effects (MAVEs) provide complementary approaches, with VEPs offering scalable predictions and MAVEs delivering detailed empirical measurements. However, MAVEs are resource intensive and c...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 828c9d2f-0619-59e7-9fda-1ff97ee42a8f
DOI: 10.64898/2026.03.18.712765

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Disagreement among variant effect predictors guides experimental prioritization of target proteinsDOI 10.64898/2026.03.18.712765Read

Why variant effect predictors and multiplexed assays agree and disagreeSemantic proximity Read

Variant effect predictor correlation with functional assays is reflective of clinical classification performanceSemantic proximity Read

ESMRank reveals a transferable axis of protein mutational constraint from overlapping variant effect assaysSemantic proximity Read

Assessing variant effect predictors and disease mechanisms in intrinsically disordered proteinsSemantic proximity Read

Updated benchmarking of variant effect predictors using deep mutational scanningSemantic proximity Read

Interpreting protein variant effects with computational predictors and deep mutational scanning.Semantic proximity Read

Understanding the heterogeneous performance of variant effect predictors across human protein-coding genes.Semantic proximity Read

Understanding the heterogeneous performance of variant effect predictors across human protein-coding genesSemantic proximity Read

Epitope Effect Prevalence in Affinity-based pQTL studiesSemantic proximity Read

Updated benchmarking of variant effect predictors using deep mutational scanning.Semantic proximity Read

Gene- and domain-aware calibration increases the clinical utility of variant effect predictorsSemantic proximity Read

Variant characterization in the intrinsically disordered human proteomeSemantic proximity Read