DeepBD integrates LLM case structuring, an evidence engine, specialist modules, and review to achieve Recall@1/3/5/10 of 0.658/0.882/0.912/0.929 on an internal held-out benchmark from 18,622 cases, outperforming Exomiser and LLM baselines.
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DeepBD: A Grounded Agentic Workflow for Variant Prioritization and Diagnosis of Genetic Birth Defects
DeepBD integrates LLM case structuring, an evidence engine, specialist modules, and review to achieve Recall@1/3/5/10 of 0.658/0.882/0.912/0.929 on an internal held-out benchmark from 18,622 cases, outperforming Exomiser and LLM baselines.