Article

Evo 2 Predicts Cardiomyopathy-Associated Variants and Elucidates Their Underlying Mechanisms

2026-05-17

Abstract excerpt

<h4>Background</h4> Although advances in next-generation sequencing have accelerated the identification of genetic variants in cardiomyopathy, interpreting variants of uncertain significance (VUS) remains a clinical challenge. Evo 2 is a high-resolution genomic artificial intelligence model capable of predicting pathogenicity across large sequence contexts and enabling mechanistic interpretation; however, its app...

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Literature Corpus work: eb53ef6c-89d5-5fd2-b9ef-263b9801f037
DOI: 10.64898/2026.05.15.725304

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