arXiv: DeepBD, a grounded agentic workflow for genetic birth-defect variant prioritization

arXiv·medium signal

DeepBD presents a grounded agentic workflow for prioritizing variants and diagnosing genetic birth defects from exome/genome data, targeting cases with suspected genetic etiologies. It's a concrete example of a domain-specialized clinical agent that chains evidence-grounded reasoning steps rather than relying on a single LLM call. The 'grounded' framing — tying each step to verifiable evidence — is the pattern worth watching for high-stakes vertical agents where hallucination is unacceptable.