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  • 1st Czechoslovak Congress of Medical Genetics 2025

    In the spring, we will participate in the 1st Czechoslovak Congress of Medical Genetics, which will take place from April 2–4, 2025, at the Cultural and Congress Center Elektra in the spa town of Luha...

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  • RANK 2025

    Visit us at the 19th edition of the RANK 2025 conference, which will take place on March 19th and 20th at the Zlatá Štika Hotel in Pardubice. The conference is organized by the Czech Society of Clinic...

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  • Kapras Day 2025

    We would like to invite you to the 23rd Kapras Day on the topic of  "Clinical Genetics," which will take place on Wednesday, February 26, 2025, in the Congress Hall of Hotel Olšanka in Prague. We loo...

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Geneticist Assistant

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GA001

 

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: 

 

 

Standalone Program and single user license 

Network Version and single user license 

Site License

Additional User licenses for Standalone program

Additional user licenses for Network version

Annual technical assistance and update subscription for basic license

Annual technical assistance and update subscription for additional licenses (each)


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.

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