COMPREHENSIVE GENOME ANALYTICS FOR DIAGNOSTICS AND DISCOVERY

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Sapientia by Congenica
  • Upload any kind of NGS data from gene panels, exomes, genomes

  • All genomic file formats are accepted: FASTQ, BAM, VCF

  • Link your trio samples by entering pedigrees (PED files describing child/father/mother relationships)

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

  • Add additional annotations to your samples, in any format (doc, xls, jpg, pdf, …)

  • Identify and annotate SNVs, Indels, structural variants, de novo mutations, etc

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

  • 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, OrphaNet 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

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Why Choose Us

  • One-stop shop: 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 multi-disciplinary clinical team, highest level security
  • Universal: applicable to genetic disorders, from gene panels to WGS

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