Products

BaseSpace Variant Interpreter

BaseSpace Variant Interpreter enables genetic labs to rapidly identify biologically significant variants from human genomic data.
With BaseSpace Variant Interpreter, you can
  • Annotate: Perform rapid, rich, and accurate annotation of genomic data using a broad range of sources
  • Report: Customize workflows and summarize findings into structured reports
  • Customize: Analyze variants from all assay types, from whole-genome sequencing to targeted sequencing
  • Scale: Assign user roles and permissions across multiple geo-locations for increased lab operational efficiency and scalability
  • Access: 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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BaseSpace Variant Interpreter

Frequently Purchased Together

Key Features

Streamlined Interpretation and Reporting

Pathogenicity autoscoring and automatic recording, tracking and management of classified variants help 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 27001 certified, BaseSpace Variant Interpreter is designed to support compliance with data security, version control, and traceability.

Schellman ISO 27001 Logo

Illumina has received ISO 27001 certification of its information security management system (ISMS) supporting BaseSpace Sequence Hub and BaseSpace Variant Interpreter, hosted in Amazon Web Services (AWS), in both the US and EMEA. The certification was performed by Schellman, an ANAB and UKAS accredited Certification Body based in the US.

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.

Watch Webinar
Introduction to BaseSpace Variant Interpreter (Beta)

Supporting Data and Figures

 

Product Literature

Technical Note | PDF | 4 versions

BaseSpace Variant Interpreter and Knowledge Network FAQs

FAQ Document | PDF< 1 MB

DRAGEN Accuracy Application Note

Application Note | HTML

BaseSpace Sequence Hub Quick Apps Handout

Brochure | PDF< 1 MB

Benefits of whole-genome sequencing

Brochure | PDF< 1 MB

BaseSpace Variant Interpreter

Data Sheet | PDF< 1 MB

DRAGEN Germline Pipeline Specification Sheet

Data Sheet | HTML

Support and Developer Resources

BaseSpace Variant Interpreter Documentation

All BaseSpace Variant Interpreter Support 

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