BaseSpace Variant Interpreter allows scientists to rapidly identify biologically significant variants from human genomic data.
Key Features
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
Product Highlights
Streamlined Interpretation and Reporting
Pathogenicity autoscoring and automatic recording, tracking, and management of classified variants help streamline the interpretation process. Reports can easily be built 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. Aggregating 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.