Article

GEN-KnowRD: Reframing AI for Rare Disease Recognition

2026-03-03

Abstract excerpt

Rare diseases affect over 300 million people worldwide, yet patients often endure years-long diagnostic delays that limit timely intervention and trial opportunities. Computational rare disease recognition (RDR) remains constrained by knowledge resources that are often incomplete, heterogeneous, and dependent on extensive multi-disciplinary expert curation that cannot scale. Large language models (LLMs) applied di...

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Literature Corpus work: 13f9972d-5fbb-5acb-bd12-e7ce51ace9fe
DOI: 10.64898/2026.03.02.26347469

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