Article

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

2026-03-06

Abstract excerpt

Rare Mendelian disorders affect 300-400 million people globally. Although genetic testing has become widely adopted, gene-specific evidence for tailored variant interpretation remains scattered across resources. We present Gene Portals, a framework for gene-centered multimodal knowledge bases that co-localize expert-harmonized clinical data, functional assays, population variation, structural annotations and gene-...

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Literature Corpus work: b56360da-49fa-538c-b3a8-eb802d1e2f18
DOI: 10.64898/2026.03.05.26347086

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