Hospitals · Diagnostic labs
Shorten the diagnostic odyssey.
Families with rare disease wait years for answers. Interpretation is the bottleneck: millions of variants, scarce specialists, manual curation that does not scale.
What the platform does
Clinical Genomics & Rare Disease on Soma Nova.
01
Automated variant annotation and phenotype-aware prioritisation
02
Transparent ACMG/AMP classification with evidence links
03
Human-reviewed FHIR reports into your existing workflow
Outcome — Faster, more consistent diagnosis.
Every call is evidence-linked, reviewed and signed by a qualified person, and returned as FHIR into the systems you already run. How the platform holds up →
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Bring clinical genomics & rare disease to your service.
Anchor sites get early capability and a real say in the roadmap.