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The NGS Interpretative Workbench

Efficient... Saves Time & Resources * Controls...Real-time Administration & Reporting * For...Disease Panels and Whole Exome Sequencing data * Compatible...with data from all NGS Systems

Developed in collaboration with the Laboratory Medicine, Information Technology and Health Science Research departments of Mayo Clinic, Geneticist Assistant NGS Interpretative Workbench is a unique tool for the management, control, visualization, functional interpretation and historical knowledge base of next generation sequencing Whole Exome data or targeted at specific genes for the purpose of identifying potentially pathogenic variants associated with specific conditions such as hereditary colon cancer and others.

 

Geneticist Assistant is compatible with data processed from all leading next generation sequencing platforms including Ion Torrent, Illumina and Roche platforms. The program accepts standardized BAM and VCF files, and includes information from the following sources:

• Functional Prediction information:
  SIFT, PolyPhen2, LRT, Mutation Taster, FATHMM, CADD & Mutation Assessor
• Disease association:
  ClinVar, OMIM & COSMIC
• Conservation scores:
  PhyloP, GERP++, phastCons & SiPhy
• Population frequencies:
  1000 Genomes and Exome Variant Server
• Additionally, information from proprietary databases such as Alamut and LOVD are easily accessible through embedded links.
• Information from other publicly available data bases are easily imported into the workbench.

 

 

The new administration function provides a real-time tracking of current statuses; historical information; automated email notifications within a completely customizable work flow built to model your actual activities.

Unique tools include CAP Validation Assistance, automated .BED file builder which automatically highlights areas of clinical significance, Positive Control Verification, and in conjunction with NextGENe software can form a completely automated informatics pipeline.

 

Geneticist Assistant Features:

Variant Database

• User Management, audit trial, access control
• Pathogenicity Calling Information
• Pathogenicity Call Supporting Information
• Linkage to External Databases
• Historical Database
• Automated Quality Control
• Accessibility
• NIST Genome in a Bottle Reference Samples

Operational Management

• Customizable workflow builder
• Real-time Tracking and Reporting

Cool Tools

• CAP Validation Assistance
• Process Quality Control
• Positive Control Verification
• Automatic ".BED" file builder with regions of clinical significance
• Automated Informatics Pipeline
• Family & Trio Comparison
• Report Designer

Pipe Line NEW!!

• NextGENe-Geneticist Assistant Pipeline supports performance metric reporting of AMP and CAP recommendations.

Technical Support

• Licensing options, suggested hardware configuration and current released version
• Literature
• Manuals and Application Notes click Supporting Documents (top of page)
• Contact details Technical Support

Trial, Quote or Webinar Request Form

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