Article

Deep Agentic Variant Prioritisation for Expert Level Genetic Diagnosis

2026-02-18

Abstract excerpt

Diagnosing rare genetic disease hinges on identifying the causal variant among thousands of candidates, a task that leaves most of the 300 million affected patients undiagnosed despite the availability of genome sequencing. Here we present DAVP (Deep Agentic Variant Prioritisation), a hierarchical agentic-LLM pipeline combining gene pre-filtering, knowledge-graph-grounded variant reports, and iterative LLM tournam...

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Literature Corpus work: cebbd4bf-74bd-53ff-b748-216db7f421b5
DOI: 10.64898/2026.02.17.26346421

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