Solutions / Clinical Genomics & Rare Disease
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 doesn’t scale.

Standards & complianceHL7 FHIRACMG/AMPCPICGA4GHGDPR
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

Explainable

Every call is evidence-linked and auditable.

Human-reviewed

A qualified reviewer signs off every result.

Interoperable

FHIR reports drop into your existing systems.

Outcome — Faster, more consistent diagnosis.

Get started

Bring clinical genomics & rare disease to your service.

Anchor sites get early capability and a real say in the roadmap.