Article

Berrylyzer-an Efficient, Traceable, and Lightweight Intelligent Agentic System for Prenatal Genetic Diagnosis

2026-04-04

Abstract excerpt

<h4>Background</h4> Artificial intelligence (AI)-driven variant prioritization has demonstrated substantial utility in expediting genetic diagnosis by ranking the most likely causative variants. While a variety of tools have been developed, few address the unique clinical and technical constraints in prenatal genetic diagnosis. <h4>Methods</h4> We introduce Berrylyzer, a novel, end-to-end variant prioritization...

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Literature Corpus work: 4bb47374-d5b9-59e5-b6b7-d74c70305089
DOI: 10.64898/2026.04.02.26349929

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