Article

MAGI: Mechanistic Consequences of Genetic Variants via Genomic Foundation Models

2026-06-03

Abstract excerpt

Clinical variant interpretation requires mechanism-aware evidence to guide diagnosis and clarify the biological consequences of mutations. However, existing computational predictors and genomic foundation models largely function as black boxes, providing pathogenicity labels with limited mechanistic insight or clinical actionability. Here, we present MAGI (Mechanistic Annotation of Genomic Impacts), a novel method...

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Literature Corpus work: bfa6c9a7-aa3c-5d33-b48d-386a2f1ee4b6
DOI: 10.64898/2026.05.31.729117

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