Microsoft Research· Research / PhiDeveloper tool

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

Talos is an open-source tool for automated, iterative reanalysis of genomic data to diagnose rare diseases, designed to be conservative with low false-positive rates, recovering 90% of diagnoses in validation with only 1.3 candidate variants per patient.

From the source

Talos is an open-source tool for automated, iterative reanalysis of genomic data in rare disease. It efficiently re-examines stored sequencing data as scientific knowledge evolves and flags variants with newly actionable evidence.

microsoft.com

Announced

24 Jun 2026 14:00 UTC

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