Article

Variant scoring performance across selection regimes depends on variant-to-gene and gene-to-disease components

2024-09-19

Abstract excerpt

Variant scoring methods (VSMs) aid in the interpretation of coding mutations and their potential impact on health, but their evaluation in the context of human genetics applications remains inconsistent. Here, we describe GeneticsGym, a systematic approach to evaluating the real-world impact of VSMs on human genetic analysis. We show that the relative performance of VSMs varies across regimes of natural selection,...

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Identifiers and source

Literature Corpus work: 43885873-7738-527c-a044-ca18c02a4400
DOI: 10.1101/2024.09.17.613327

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