Rare disease diagnosis is challenging, as sequencing can surface millions of variants, and medical knowledge changes constantly. (opens in new tab)

Rare disease diagnosis is challenging, as sequencing can surface millions of variants, and medical knowledge changes constantly. o3 Deep Research helped connect clinical features, inheritance patterns, variant evidence, and scientific literature into hypotheses for specialists to review. Every result went through human adjudication and clinical confirmation. AI’s role here was to help experts reason through complex, fragmented evidence faster and more thoroughly.