Overview: Geneticist Assistant - The NGS Interpretative WorkbenchProduct information
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:
User Management, audit trial, access control
Pathogenicity Calling Information
Pathogenicity Call Supporting Information
Linkage to External Databases
Automated Quality Control
- NIST Genome in a Bottle Reference Samples
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!!
The supporting documents available for this product can be downloaded below.