Article

Dissecting the functional landscape of rare diseases through genomic variation in a heterogeneous cohort of 11,000 patients

2026-06-11

Abstract excerpt

<h4>ABSTRACT</h4> Rare diseases (RDs) pose a major diagnostic challenge. Genetic and phenotypic heterogeneity, incomplete knowledge of disease mechanisms, and limitations in variant clinical interpretation leave many patients without a molecular diagnosis. Meanwhile, the growing volume of genomic data generated in clinical practice offers an opportunity to develop data-driven methodologies for exploring disease m...

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Literature Corpus work: 0ce21115-4859-547d-8cd8-7b3ad65c76c5
DOI: 10.64898/2026.06.10.26355349

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