Article

aiDIVA – Diagnostics of Rare Genetic Diseases Using Large Language Models

2025-09-07

Abstract excerpt

Genome sequencing (GS) enables the accurate identification of genetic variants in most genomic regions and is rapidly transforming routine diagnostics for rare diseases (RD). While streamlined data generation is scalable, efficient prioritization and correct clinical interpretation of detected alterations remain a challenge, often requiring manual classification by experts with years of training. Hence, there is a...

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Literature Corpus work: 441810fd-9158-5aed-addc-0c318be8eaf8
DOI: 10.1101/2025.09.04.25335099

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