Rare Disease Diagnosis
From weeks of manual analysis to a 5-minute AI-powered diagnosis. Trio, duo, and single-sample analysis with phenotype-aware variant classification.
Rare Disease Diagnosis Takes Too Long
Diagnosing rare genetic diseases traditionally requires 4+ weeks of expert review per case. Variant analysts must manually sift through thousands of variants, cross-reference multiple databases, and compile evidence for each candidate. For trio analyses involving parent-child samples, this complexity multiplies.
The result: diagnostic bottlenecks, long patient wait times, and limited throughput. Labs with scarce genetic expertise can only process a handful of cases per week, leaving patients and families waiting for answers.
How AIVA Accelerates Rare Disease Diagnosis
Purpose-built capabilities for rare disease diagnosis
Trio & Multi-Sample Analysis
Upload family trios, duos, or single samples as multi-sample VCFs. AIVA maintains sample relationships and analyzes inheritance patterns across family members without any preprocessing.
Phenotype-Aware ACMG Classification
AIVA considers the patient's clinical symptoms when classifying variants, applying phenotype-specific ACMG codes (PP4, PS4, PP1/BS4) to match variant-disease associations to the patient's presentation.
Natural Language Variant Queries
Ask questions like "Find pathogenic variants in this trio that match the patient's phenotype" and get instant results. AIVA searches literature, queries databases, and filters variants in under 1 minute per query.
One-Click Clinical Reports
Generate clinical-grade reports in your lab's exact format with flagged variants, ACMG classifications, and supporting evidence. What takes days is completed in minutes.
Insights in approximately 5 followup queries with AIVA
From annotated sample to actionable clinical insights
Patient data is not stored or used for model training
Start Diagnosing Faster
See how AIVA transforms rare disease diagnosis for your lab. Request a demo or try AIVA live today.