Talos: Automated Genomic Reanalysis for Rare Disease Diagnosis

Talos is an open-source tool that automates iterative reanalysis of genomic data to identify rare disease diagnoses. It achieved a 90% recovery rate of in-scope diagnoses with only 1.3 candidate variants per patient, and delivered 241 new diagnoses across 5,000 undiagnosed patients, with most new findings emerging within 32 days of evidence publication.