A research team from Australia’s Centre for Population Genomics, in collaboration with Australian Genomics, the Broad Institute, and Microsoft Research, reported an open-source automated tool—Talos—that can reanalyze genomic data for rare disease at scale. In a Nature Medicine study, Talos was tested on 4,735 unsolved rare disease cases and produced 241 diagnoses, with more than half linked to gene- or variant-disease knowledge discovered after initial sequencing. The team said Talos is designed to be customizable so institutions can tune sensitivity and specificity for clinical settings, while still requiring labs to manually review positive results to maintain high specificity. The groups reported Talos focuses on genes and variants with high-confidence associations from curated resources like PanelApp Australia and ClinVar. By reducing the manual, patient-by-patient reanalysis burden, the platform aims to support more timely diagnosis, family risk assessment, and trial matching as new discoveries emerge.