Congenica have developed the gold-standard clinical genomics analysis platform Sapientia, born out of pioneering research from the Sanger Institute and the NHS.

With this platform, Congenica aim to revolutionize personalized patient care through accurate diagnoses, curation of evolving knowledgebases and support in clinical trials and drug development.

Their world-class team of experts have gathered together, in a single secured platform, all the resources necessary to enable clinicians and scientists to make informed medical decisions. Validated by Genomics England for the 100K Genomes project, Sapientia is empowering doctors around the world to diagnose the un-diagnosable.

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  • Upload Next Generation Sequencing (NGS) data from gene panels, to exomes, to genomes

  • FASTQ, BAM, VCF formats accepted

  • Link your trio samples to automatically generate pedigrees (describing child/father/mother relationships)

  • Describe the associated phenotype with a built-in HPO (Human Phenotype Ontology) terms picker.

  • Add supporting information for your samples, in any format (doc, xls, jpg, pdf, …)

  • Identify and annotate SNVs and Indels and explore structural variants (SVs) and copy number variants (CNVs)

  • Record your evidence criteria as per the ACMG Guidelines for Variant Interpretation

  • Create your own virtual gene panels, create curated lists of genes for filtering and annotation, and prioritise gene lists for larger data sets, such as exomes or genomes

  • Fully integrated genome browser

  • Choose which information you display, and customise and adapt this in real time in your web browser to include sequence data, coverage, protein sequence, splice sites, etc

  • Interactive graphics summarise and display your QC data

  • Access variant annotations manually curated by clinical experts, and integrate your own legacy data to enhance your diagnostic capabilities

  • Speed up clinical interpretation of variants using integrated OMIM and PubMed tools combined with all major variant databases

  • Securely share access to analysis of the genotype and phenotype data with your team

  • Demonstrate compliance through audit trails, identifying users, their annotations and the associated evidence

  • Facilitate access for multi-disciplinary review meetings, and annotate decisions directly

  • Customisable report formats can be generated to include your own layout and content

Why Choose Us

  • Substantive: sequencing, annotation, interpretation, clinical report

  • Scalable: from single patient testing to supporting national testing programs
  • Efficient: faster and cheaper than single gene tests
  • Certified: accredited, experienced clinical team, highest level security

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