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

With this platform, Congenica aim to revolutionize personalized patient care through accurate diagnosis, 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, the resources necessary to enable clinicians and scientists to make informed medical decisions. Chosen by Genomics England for the 100K Genomes project, Sapientia is empowering doctors around the world to diagnose the previously un-diagnosable.

Request Demo
  • Upload Next Generation Sequencing (NGS) data from gene panels, exomes, or genomes

  • FASTQ, BAM, VCF formats accepted

  • Link your family members to automatically generate pedigrees (describing child/father/mother etc. relationships)

  • Prioritisation of variants using associated phenotype HPO (Human Phenotype Ontology) terms

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

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

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

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

  • Fully integrated genome browser

  • Customise your display in real time to include or exclude sequence data, gene panels, 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 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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