Talos: Scaling rare disease diagnosis with automated, iterative genomic reanalysis

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Talos was built to help resolve a major bottleneck in genomic medicine: human review time. The open-source system recovered 90% of in-scope diagnoses while surfacing just 1.3 candidate variants per patient for expert review. The post Talos: Scaling rare disease diagnosis with automated, iterative genomic reanalysis appeared first on Microsoft Research.