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Congenica® platform features

Congenica is a secure and scalable platform designed by clinical experts to meet your genomic analysis needs. Packed full of exclusive features, Congenica brings together the most comprehensive range of tools and data sources within a single solution to optimize your secondary and tertiary analysis of all next-generation sequencing data.

Compared to industry averages, the platform enables clinical laboratories to reach decisions in 30% more cases and reduce manual data processing, analysis times and costs by 95%. 1

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Prioritize. Interpret. Report.

Proven, scalable and secure

The easy-to-use platform is designed to securely process high volumes of whole genome, whole exome, and gene panel data delivering an optimum solution to fit your needs and allowing rapid interpretation at scale.

Any way you want it

Choose between GRCh37 or GRCh38 reference genomes, on-premise or cloud-hosted data storage, custom integrations and a suite of specialist therapeutic area applications. All options benefit from the same functionally-rich software, automated processes and feature updates – putting you in full control without compromising quality.

Efficient pipeline automation

Congenica automates variant calling, alignment and prioritization pipelines to enable faster data processing from sequencer to report. Screening for known variants and rapid triage of novel variants while minimizing the opportunity for transposition errors.

Call and interpret CNVs, SNVs and Indels in one place

Complete calling and analysis of CNVs, SNVs and Indels in one place with the intuitive Congenica workflow, streamlined to help reduce analysis time and facilitate cost-effective ways of working.

Quality Assurance and Gene Coverage

Congenica automatically calculates and displays gene-level coverage data for you, highlighting coordinates of low coverage regions for review to improve your efficiency and minimize the risk of false-negative results. The platform also provides comprehensive audit logs and quality control checks so that you can have total confidence in your work.

Class-leading variant prioritization

Congenica delivers accurate variant prioritization, combining Exomiser with automated statistical analysis and machine learning technologies to instantly identify high priority variants in relation to a patient’s phenotype (using Human Phenotype Ontology terms), simplifying your analysis and improving diagnostic yield.

Integrated Genome Browser and pedigree generation

Contextualize your findings with Congenica’s Integrated Genome Browser and multi-level pedigree generation to visualize all of your data in one place. Analyze multiple data sources with ease in the interactive browser and explore entire family structures with phenotype information to improve understanding of cases and streamline your interpretation.

Dynamic variant filtering

The flexible suite of dynamic filters and prioritization tools in Congenica quickly focuses each analysis to present the most relevant candidate variants. Pre-set filters for specific therapeutic areas accelerate clinical reviews and can be configured for detailed in-depth analysis.

Reference data sources and ACMG Guidelines classification

Congenica integrates the widest range of reference data sources to focus on a smaller number of candidate variants for a greater opportunity to make a diagnosis. The ACMG Guideline classification feature enables fast and simple variant classification and aligns your work with internationally recognized standards.

Extensive knowledgebase and supporting literature

View information relating to cases with matching variants and literature flagged by the Congenica user community to help complete thorough investigations faster using evidence from past cases.

Furthermore, Congenica automatically identifies evidence to support your analysis. The integrated Mastermind curated variant list gives you access to over 6 million published variants across all genes, filtered for specificity by Congenica to minimize the manual effort required to curate the rapidly growing body of scientific evidence and improve the opportunity for finding key genetic insights.

Fast, flexible reporting

Congenica reports ensure you receive actionable results and appropriate information from a case as soon as your interpretation is complete. Configurable electronic reports are templated to your specific requirements and are automatically generated by the software, ready for you to access instantly.

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Congenica has allowed us to scale our operation to accommodate the explosion in genomic analysis. It enables us to collate genomic information, do the analysis, and then make decisions within a single piece of software – making our entire service far more efficient.

Dr Simon Ramsden, BSC MSc PhD FRCPath
Consultant Clinical Scientist, Manchester Centre for Genomic Medicine

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References

  1. Schwarze, K., Buchanan, J., Fermont, J.M. et al. The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom. Genet Med 22, 85–94 (2020).
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