Article

AIVA: An Agentic Platform for Phenotype-Aware Variant Analysis, Interpretation and Clinical Decision Support in Rare Disease

2026-07-14

Abstract excerpt

<title>Abstract</title> <p>Background Rare disease diagnosis remains slow, with patients facing a diagnostic odyssey averaging 5 to 7 years. Genomic sequencing has shifted the bottleneck to interpretation: the challenge is identifying the pathogenic variant(s) among ranked candidates. Existing classifiers and phenotype-driven prioritization tools filter and rank candidates, but the review still occurs outside th...

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Literature Corpus work: 1fded80a-a22e-5fc2-b4a2-25d9fdea747c
DOI: 10.21203/rs.3.rs-10286684/v1

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