BaseSpace Variant Interpreter (Beta)

BaseSpace Variant Interpreter (Beta) enables genetic testing labs to rapidly annotate, filter, and interpret genomic data.
With BaseSpace Variant Interpreter (Beta), you can:
  • Perform rapid, rich, and accurate annotation of genomic data using a broad range of sources
  • Customize workflows and summarize findings into structured reports
  • Determine biological significance of genomic variants within a software framework focused on data security, compliance, and operational efficiency
  • Customize workflows for all assay types, from whole-genome sequencing to targeted sequencing
  • Assign user roles and permissions across multiple geo-locations for increased lab operational efficiency and scalability
  • Use access control, audit trail, and test configuration features for security and lab compliance
  • Accelerate variant interpretation using an integrated knowledge base containing genotype-phenotype and evidence-based variant associations with over 60,000 manually curated associations from the Illumina scientific curation team

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Streamlined Interpretation and Reporting

Pathogenicity autoscoring and automatic recording, tracking and management of classified variants helps streamline the interpretation process. Further, easily build reports based on the needs of each laboratory.

Rapid, Rich, Accurate Annotation

Access a rich repository of genotype-phenotype associations to expedite interpretation of the biological impact of variants of interest. Aggregated information from multiple sources into a single, maintained database eliminates the need for manual assembly of variant information from disparate sources.

Support for Compliance

Built upon Amazon Web Services that are ISO 270001 certified, BaseSpace Variant Interpreter (Beta) is designed to support compliance with data security, version control, and traceability.

Introduction to BaseSpace Variant Interpreter (Beta) and an Overview of the Workflow

In this succinct webinar, we address how BaseSpace Variant Interpreter (Beta), the newest member of the BaseSpace Informatics Suite, can help clinical research labs quickly identify, annotate, and classify disease-relevant variants and summarize significant findings in one report.

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Introduction to BaseSpace Variant Interpreter (Beta)

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