Article

Interpretable Fine-tuned Large Language Models Facilitate Making Genetic Test Decisions for Rare Diseases

2026-03-02

Abstract excerpt

Clinical decision making often relies on expert judgment guided by established guidelines, which can be challenging to standardize and abstract to implement. For example, selecting between gene panels and whole exome/genome sequencing (WES/WGS) for rare disease diagnosis frequently requires interpretation of evidence-based recommendations from the American College of Medical Genetics and Genomics (ACMG) guideline....

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Literature Corpus work: 1bc396a9-4fd7-57b1-8a6f-6dc6a08d2af1
DOI: 10.64898/2026.02.26.26347223

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