Geneticist Assistant

Each software has more types of license available. The price of software is influenced by more factors. Once you buy the software, it works permanently, but you can also buy additional technical support for receiving updates and for getting technical assistance. There is a table of product possibilities: 

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.