Article

Pervasive ancestry bias in variant effect predictors

2024-05-22

Abstract excerpt

<h4>ABSTRACT</h4> Variant effect predictors (VEPs) – computational tools that assess the potential impact of genetic variants – have become increasingly vital for clinical variant interpretation. Currently, most VEPs used in variant prioritisation have been trained on datasets of clinically curated or population-derived variants. These datasets, however, disproportionately represent individuals of European descen...

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Literature Corpus work: ee964281-f260-5383-a970-78229042c1e2
DOI: 10.1101/2024.05.20.594987

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