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Our Products & Services

Secondary and tertiary analysis of whole genome, whole exome, and gene panel data

Our clinical decision support platform is the world’s leading software for genomic data interpretation.

Congenica accelerates the opportunity for diagnosis and characterization of genetic diseases, increasing throughput and diagnostic yield, even in difficult-to-solve cases.1,2

Congenica

Congenica enhances diagnostic confidence, providing a full solution from data input through to the generation of clinically actionable reports with a comprehensive audit trail.

The secure, accredited and scalable platform enhances the provision of clinical information in routine practice through an intuitive visual interface and is proven to work with large volumes of data, without impacting performance, to fit the needs of any practice.

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Improve Diagnostic Yield

Congenica gets you to the answers faster, delivering a consistent increase in diagnostic yield across different sample types, diseases and family structures

Maximize Workflow Efficiency

Intelligent automation maximizes case throughput, accelerates decision-making and frees up staff time

Increase Confidence

The ISO and HIPAA compliant clinical platform, with curated variants, gives you the evidence and confidence to make definitive diagnostic decisions

Prioritize. Interpret. Report.

Proven, scalable and secure

The easy-to-use platform is designed to securely process high volumes of data, allowing fast interpretation at scale with accompanying audit logs and quality checks for complete confidence.

Any way you want it

Select your preferred reference genome, GRCh37/38, and choose between on-premise or cloud-hosted deployment and data storage. All options benefit from the same functionally-rich software, automated processes and feature updates – putting you in 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, 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 provided through a simple to implement, intuitive and streamlined workflow, which reduces time to diagnosis and facilitates cost-effective ways of working.

Advanced variant prioritization

Congenica delivers accurate variant prioritization, combining leading analysis tools such as Exomiser with automated statistical analysis and machine learning technologies. Instantly identify high priority variants in relation to a patient’s phenotype (Human Phenotype Ontology terms) and improve diagnostic yield.

Integrated Genome Browser and pedigree generation

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

Dynamic variant filtering

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

Reference data sources and ACMG Guidelines classification

Congenica integrates a wide 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 quick and simple variant classification by determining pathogenicity, aligning your work with internationally recognized standards.

Extensive knowledgebase and supporting literature

View information relating to patients with matching variants and review relevant scientific literature flagged by the Congenica user community. Complete thorough investigations more efficiently with key evidence from past cases giving greater confidence and accelerating diagnostic decisions.

Quality Assurance through Gene Coverage

Congenica calculates and displays gene-level coverage data. Genes falling below quality thresholds show coordinates of ‘low coverage’ regions for review to improve laboratory efficiency and minimize the risk of false-negative results.

Fast, flexible reporting

Configurable electronic reports ensure you get actionable results and the information you need as quickly as possible.

Request a demo to see how the world’s leading genomic interpretation platform can increase your diagnostic yield, confidence and efficiency.

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Congenica has been key in making our variant interpretation services a success.

Dr Gholson Lyon, M.D., Ph.D.
Principal Investigator
Institute for Basic Research in Developmental Disabilities, New York

Clinical Support Services

Congenica is the only solution of its kind supported by an in-house team of registered Clinical Scientists. Our team are experienced in providing expert consultancy and support to empower you to deliver a gold-standard service, including:

Laboratory set-up

Workflow optimization

Assay design and validation

Data analytics

Variant interpretation

Clinical reporting

We have utilized Congenica software and worked with their experienced Clinical team to implement a new innovative genetics service in the NHS, which has significantly improved the services we provide to patients. We cannot recommend Congenica highly enough.

Dr Sahar Mansour
Professor in Clinical Genetics
St George’s Hospital NHS

Our Certifications

ISO 27001 Certified British Assessment Bureau - Certificate No. 205723

Genomics England has been able to interpret a huge number of samples for the 100,000 Genomes Project and routinely process several thousand samples a month with the Congenica platform.

Dr Augusto Rendon
Director of Bioinformatics of Genomics England

Publications

The Congenica platform enables users to contribute to an evolving knowledgebase, furthering our understanding of genetic diseases. To learn more, see our recent publications below.

Published 24th June 2019

World Economic Forum

Published 1st June 2019

BIA

Published 30th May 2019

2019, bioRXiv

Is your confidence in each diagnosis as high as it could be?

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References

  1. Chandler N, et al. Nature. 2018;20:1430—1437;
  2. Schoeler NE, et al. Epilepsia. 2018;59:1557—1566.
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