Article

Reframing AI for Rare Disease Recognition

2026-04-02

Abstract excerpt

<title>Abstract</title> <p>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 langu...

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Literature Corpus work: 696bf4ae-ddf0-5dc3-9124-ddcd80a8f5dc
DOI: 10.21203/rs.3.rs-9036259/v1

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