Knowledgebase
Dozens of Key Data Sources
Integrating dozens of key data sources, the Knowledgebase empowers your Next Generation Sequencing analysis by highlighting associations between genes and phenotypes, providing supporting evidence for immediate evaluation, and automatically generating case reports.
- Variant Prioritization
Rapid and accurate phenotype-driven variant prioritization, supporting protein-coding genes and regulatory regions
- 10 x Genome Interpretation Scope
Leveraging leading integrated regulatory region database.
- Comprehensive Phenotype-Genotype Evidence
Enabling rapid evaluation of candidate mutations and automated population of customized reports
- superior tools and data sources
Routinely updated with cutting-edge tools and the most recent, relevant data sources
Rapid Phenotype-Driven Interpretation
Our AI-based interpretation platform allows for optimized scoring and prioritizing of variants, based on association with disease or phenotypes of interest.
prioritize and optimize ranking
Quickly prioritize variants based on their association with any free-text biological or ontology term. Use our keyword strength indicator to select terms and optimize ranking.
Clear phenotypical evidence
Drawing from dozens of biomedical data sources, our variant scores include detailed highlighting of matched phenotypes within the original clinical and publication context.
Advanced ACMG/ClinGen Variant Classification
Our automated solution allows for rapid assignment of ACMG/ClinGen variant classifications and scoring with detailed evidence.
classification with context
ACMG classifications are not limited to variant-level annotations, but include case-level contextual information, along with inheritance models and associated samples.
Clear phenotypical evidence
Each classification is accompanied by relevant evidence from numerous annotations and case-specific context.
Custom Reports & Automated Evidence Collection
Our flexible reporting capabilities enable you to use customizable or pre-built templates based on the various tests offered by your lab.
Automated clinical reports
Complete comprehensive clinical reports are automatically generated by leveraging structured data from the Knowledgebase.
Customizable report templates
Offer your customers unique, fully branded clinical reports with our full customization option.
Genetic Data Storage & NGS Pipeline Management
Store unlimited, secure genetic data and leverage highly efficient NGS pipelines for various applications, or design your own.
Unlimited Genetic Data Storage
Easily manage and store your genetic data in our HIPAA and GDPR-compliant secure cloud, together with all metadata and relevant clinical data.
Flexible NGS Pipeline Management
Analyze your data with highly efficient pipelines for whole genome, whole exome and panels, including support for CNVs, structural variations and repeats across the genome. Fully customizable pipelines are available to fit your specific application.
Customizable Workflows and Integrations
Start analyzing your data immediately with best practices-based pipelines for whole genome, whole exome and panels that support for Copy Number Variations, Structural Variations and Repeats across the genome. Our workflows are fully customizable, allowing you to design for your precise application.
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