Laboratory software BaseSpace Variant

for geneticsmanagementcontrol

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.