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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.
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.
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.
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
Visualize reads that support each variant call when reviewing data imported from BaseSpace Sequence Hub.
Review variant details and annotations at a glance and track user-defined interpretations and bookmarked variants.
Filter variants using user-defined gene lists, quality measures, population frequencies and annotation details. Save user-defined filters for easy application to future cases.
Review associations from BaseSpace Knowledge Network to use in variant interpretation.
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.
Technical Note | PDF | 4 versions
BaseSpace Variant Interpreter and Knowledge Network FAQs
FAQ Document | PDF< 1 MB
BaseSpace Sequence Hub Quick Apps Handout
Brochure | PDF< 1 MB
Benefits of whole-genome sequencing
Brochure | PDF< 1 MB
Data Sheet | PDF< 1 MB
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