Congenica provides a clinical‑grade genomic interpretation platform that transforms raw NGS data into actionable variant reports for rare disease, oncology, and infectious disease. The system combines multi‑modal analysis (SNV/indel, CNV, SV, mitochondrial, mosaic, STR) with AI‑driven prioritization, automated ACMG classification, and monthly re‑analysis to keep diagnoses up‑to‑date, all within a secure, CE‑IVDR and ISO‑certified environment.
Funding
Funding not disclosed
QFounders
Product
Problem
Clinical laboratories and clinicians often face bottlenecks when interpreting large‑scale genomic data, leading to delayed diagnoses and inconsistent variant classification. Existing tools may lack integration of AI, comprehensive variant types, and automated re‑analysis, making it difficult to keep pace with rapidly expanding reference databases.
Solution
Congenica offers a clinical‑grade genomic interpretation platform that converts raw NGS data into actionable insights for rare disease, oncology, and infectious disease applications. The platform combines a multi‑caller pipeline (including SNV/indel, CNV, SV, mitochondrial, mosaic and STR detection) with AI‑driven prioritization and automated ACMG classification. DiagAI generates near‑report‑ready variant comments and ranks candidates using transparent scoring and phenotypic matching. A monthly GenomeAlert re‑analysis automatically revisits unsolved cases as databases are updated, alerting users to new diagnostic evidence. All data are secured with double‑encryption and the system is CE‑IVDR and ISO‑certified, ensuring compliance for clinical deployment.
Target Audience
Primary customers are clinical genetics laboratories, hospital genomics services, and diagnostic teams in oncology and infectious disease that require high‑throughput, AI‑enhanced variant interpretation.
Features
- Multi‑modal analysis pipeline supporting panels, WES, WGS, CNV/SV, mitochondrial, mosaic and STR detection
- AI‑powered DiagAI Autofill and Prioritization that produces clinical‑level variant narratives in seconds
- Automated ACMG criterion application with ClinGen and gene‑specific VCEP recommendations
- GenomeAlert monthly re‑analysis that flags newly actionable variants in previously unsolved cases
- Flexible filtering engine with preset combos, shared configurations, and customizable private views
- Secure double‑encryption of each patient file and compliance with CE‑IVDR, ISO 13485 and ISO 27001 standards
- Web‑based dashboard for visualizing variants in genomic context alongside annotations and research links