AI Loop Finds Rare Variant Human Labs Missed Due to Distance-Based Filtering

danielmckinn0n · x · 2026-10-01

In a podcast interview, Daniel McKinnon of GamowLabs described how their AI diagnostic loop caught a pathogenic variant in his son that human labs had missed: the variant sat a megabase upstream of the gene, and the lab filtered out structural variants over a kilobase away — a reasonable trade-off for human reviewers, but one the AI loop simply kept searching past. The conversation also covered more technical details of GamowLabs' approach.

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