Talos: Scaling rare disease diagnosis with automated, iterative genomic reanalysis
Microsoft released Talos, an open-source genomic reanalysis system that reduces expert review burden while recovering most eligible rare disease diagnoses.
Excerpt
<p>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. </p>
<p>The post <a href="https://www.microsoft.com/en-us/research/blog/talos-scaling-rare-disease-diagnosis-with-automated-iterative-genomic-reanalysis/">Talos: Scaling rare disease diagnosis with automated, iterative genomic reanalysis</a> appeared first on <a href="https://www.microsoft.com/en-us/research">Microsoft Research</a>.</p>
Read at source: https://www.microsoft.com/en-us/research/blog/talos-scaling-rare-disease-diagnosis-with-automated-iterative-genomic-reanalysis/