BaseSpace Variant Interpreter will no longer be accepting or supporting new sign-ups after 6/15/23. While new registrations will no longer be available and supported, we assure you that our dedicated team will continue to provide support to our existing customers. Please don't hesitate to reach out to our support team if you have any questions or require any assistance. We value your trust and loyalty and are grateful to have you as part of our valued Illumina customer community.
BaseSpace Variant Interpreter
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
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Frequently Purchased Together
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.
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.
Streamlining Genomic Analysis with BaseSpace Variant Interpreter
In this succinct webinar, we address how BaseSpace Variant Interpreter can help clinical research labs quickly identify, annotate, and classify disease-relevant variants and summarize significant findings in one report.
Watch Webinar
Integrative Genome Viewer
Visualize reads that support each variant call when reviewing data imported from BaseSpace Sequence Hub.
Variant grid
Review variant details and annotations at a glance and track user-defined interpretations and bookmarked variants.
Variant filters
Filter variants using user-defined gene lists, quality measures, population frequencies and annotation details. Save user-defined filters for easy application to future cases.
Access to knowledge
Review associations from BaseSpace Knowledge Network to use in variant interpretation.
SV and CNV review
Interactive visualization of structural variants (SVs) and copy number variants (CNVs) in the context of their genomic position, normalized coverage levels and degree of allelic imbalance.
Product Literature
BaseSpace Variant Interpreter and Knowledge Network FAQs
FAQ Document | PDF < 1 MB
Technical Note | PDF | 4 versions
Data Sheet | PDF < 1 MB
Support and Developer Resources
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Correlation Engine
Correlation Engine is an interactive omics knowledgebase that puts private omics data in biological context with highly curated public data.