Article

Large Language Models Enhance Molecular Diagnoses of Mendelian Disorders via A Novel Logic

2025-12-22

Abstract excerpt

<title>Abstract</title> <p> Mendelian disorders are a class of heritable conditions caused by mutations in a single gene. To date, a total of 7,623 distinct Mendelian disorders and 4,989 related genes have been identified, accounting for over 18% of pediatric hospitalizations. An accurate molecular diagnosis is critical for guiding clinical management. The conventional diagnostic logic involves classifying a pat...

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Literature Corpus work: f7cab858-b24d-5056-bc79-a3d85cffa987
DOI: 10.21203/rs.3.rs-8387316/v1

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