# Microsoft Research — Talos: Scaling rare disease diagnosis with automated, iterative genomic reanalysis

- Company: Microsoft Research (microsoft.com)
- Announced: 2026-06-24T14:00:14+00:00
- Category: developer-tool-release
- Subject: Research / Phi
- Source: https://www.microsoft.com/en-us/research/blog/talos-scaling-rare-disease-diagnosis-with-automated-iterative-genomic-reanalysis/
- Record: https://forck.live/items/2464-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.

## Evidence

Verbatim from https://www.microsoft.com/en-us/research/blog/talos-scaling-rare-disease-diagnosis-with-automated-iterative-genomic-reanalysis/:

> 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.

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Record: https://forck.live/items/2464-talos-scaling-rare-disease-diagnosis-with-automated-iterative-genomic-reanalysis
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