Talos: Scaling rare disease diagnosis with automated, iterative genomic reanalysis
Reported by Microsoft Research: Talos: Scaling rare disease diagnosis with automated, iterative genomic reanalysis. Analysis and context written by TickrWire.
Microsoft Research open-sources Talos, an automated system for iterative genomic reanalysis that recovers 90% of rare disease diagnoses while reducing expert review workload to 1.3 candidate variants per patient.
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.
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