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

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.