IndiGeneUs.AIA Genetico PlatformThe clinical infrastructure for rare and genetic disease
Clinical workflows, AI-assisted decision support, structured longitudinal data, and analytics — brought together in one intelligent ecosystem built for the institutions that treat the hardest cases.
Schedule a walkthroughGX-2041 · 2 y 4 m · global developmental delay, seizure, coarse facial features, hepatosplenomegaly, corneal opacity
Pedigree Intelligence
Create detailed family pedigrees through an intuitive visual interface designed for clinical genetics. Capture inheritance patterns, phenotype relationships, and family history as structured data that supports diagnosis, clinical decision support, and future analysis.
Interactive pedigree builder with automated relationship mapping
Visualize inheritance patterns and genetic relationships
Integrated with longitudinal patient records and clinical workflows
RAPID Score
Ranks 100 OMIM and Orphanet diseases against the HPO terms the clinician selects. Rarer symptoms weigh more, and the list re-ranks as terms are added or removed.
Scores run from 0 to 1: the closer to 1, the better the disease matches the selected phenotypes
Top candidates can be added to the case's differential or downloaded as a list
Every run carries a reminder that the ranking supports, and does not replace, clinical judgement
Evidence-Based Clinical Reasoning
Phenotype Analytics shows how much each observed symptom contributed to a disease's rank, and which unobserved phenotypes are most worth checking for next — so the AI stays transparent, explainable and clinician-controlled.
Observed: how much each recorded symptom adds to the disease's score
Not yet observed: the disease's other phenotypes, ranked by how much they would add
Ranking Analytics shows the same breakdown as a stacked bar for every disease in the list
Disease Comparison & Clinical Disambiguation
Compare clinically similar rare diseases side by side, body system by body system, with each phenotype's weight and the inheritance pattern. Mark what the patient has or lacks, and it writes back to the case.
| Body system | Sialidosis type 2OMIM:256150 | GM1 gangliosidosisORPHA:354 | Mucopolysaccharidosis, type IIOMIM:309900 |
|---|---|---|---|
| Growth | Short stature0.321 | Short stature0.261Failure to thrive0.308 | Short stature0.229Growth delay0.231 |
| Face | Coarse facial features0.481 | Coarse facial features0.481Frontal bossing0.294 | Coarse facial features0.504Full cheeks0.462 |
| Eyes | Corneal opacity0.483Abnormal macular morphology0.479 | Cherry red spot of the macula0.575Corneal opacity0.347 | Corneal opacity0.347Retinopathy0.529 |
| Abdomen | Splenomegaly0.421 | Hepatosplenomegaly0.461 | Hepatosplenomegaly0.525 |
✓ marks a phenotype recorded in this patient; each number is that phenotype's weight for the disease.
- 01
Order from the case
Order the tests a case needs from the record itself. The request form fills itself from the patient's details.
- 02
Track it in the LIMS
Each order's status shows against the case until the report is released.
- 03
Every report in one place
Whether a test is run in your lab or an outside one, its report is saved to the same case record.
Request form filled from the patient record
- Sample due
- Sample received
- Testing complete
- Report released
Longitudinal Patient Journey
Capture every milestone in a patient's rare disease journey, from referral and diagnosis to treatment and follow-up, through structured longitudinal records that support continuity of care and informed clinical decisions.
Unified patient timeline across every clinical encounter
Follow-up visits and imported lab results on one record
Track disease progression, treatment response, and outcomes over time
- 24/10/2026Follow-up visitReports reviewedGrowth re-plottedDifferentials re-ranked
- 20/10/2026Reports addedLab report released via LIMSOutside report read in by Smart Extract
- 14/10/2026First consultationPedigree drawnHPO terms extractedDifferentials suggestedTests ordered
Advanced Clinical Analytics
Registry and cohort views, built on the same structured records, will show patient trends, cohort insights and disease progression across institutions.
Interactive cohort analysis across patient records
AI-assisted analytics for clinical and research insights
Export research-ready reports and datasets
Registry and cohort views are built on the same structured records and are launching soon.
Integrations
IndiGeneUs.AI works alongside the systems your institution already runs. Test orders go straight to the LIMS, and differentials draw on OMIM, Orphanet and HPO, with GeneReviews to hand. Connections to other hospital systems are scoped with each institution.
Direct connection to LIMS and genetic testing platforms
Released reports return to the patient record
Live lookups against OMIM, Orphanet, HPO and GeneReviews
Deployment Flexibility
Whether deployed on-premise or in the cloud, IndiGeneUs.AI adapts to institutional security, compliance, and operational requirements while ensuring scalability and performance.
Cloud, on-premise or fully air-gapped deployment
Institution-controlled data residency and retention
Scales from a single centre to a national programme
Managed infrastructure, auto-scaling, zero operational overhead.
Full data sovereignty, custom infrastructure, air-gapped options.
Mix of cloud and on-premise based on data sensitivity policies.
Enterprise-grade Data Protection
Clinical and genomic data is encrypted during transmission and storage using industry-standard security protocols.
Role-based Access Control
Granular permissions ensure every user accesses only the information relevant to their clinical or operational responsibilities.
Complete Audit Trails
Every action is securely logged, providing full traceability, accountability, and compliance across clinical workflows.
Build the Future of Rare Disease Care with IndiGeneUs.AI
Discover how AI-assisted clinical workflows, structured data intelligence, clinical decision support, and advanced analytics can help transform rare disease care across your institution.