April 9, 2012, State College PA SoftGenetics announced today they will collaborate with Mayo Clinic in the development of a comprehensive database, which will present to clinical researchers and geneticists the results of next generation sequencing and quality metrics, as well as prediction information from various databases and historical conclusions in a single interactive view.
The workbench will be designed to accept sequencing data from all sequencing platforms, contain easily accessible relevant sequencing quality control information and allow individual institutions to input historical conclusions for future reference.
The consultant workbench, Geneticist Assistant, is a web based tool for the visualization, interpretation, and analysis of next generation sequencing data targeted at specific genes for the purpose of identifying potentially pathogenic variants associated with specific conditions such as hereditary colon cancer. Targeted users include analysis technicians, technical specialists, genetic counselors, as well as consultants and pathologists. The workbench will provide stakeholders with the ability to review sequencing quality, review new and historical data, and provide annotation and to employ prediction information from various resources such as COSMIC, dbNSFP and other predicative databases.
“The Mayo Clinic Molecular Genetics Laboratory has been very happy to work with SoftGenetics in the past and is looking forward to this new project. The successful implementation of NGS in the clinical laboratory depends on the availability of new software tools. More than ever, software is becoming an integral part of the diagnostic test that until now has lagged behind in development. We hope that this collaboration leads to a product that allows diagnostic laboratories an end to end off the shelf solution for NGS data analysis, annotation, quality control, interpretation, and reporting,” says Matthew Ferber, M.D., Ph.D., Mayo Clinic. “We are”, John Fosnacht, VP and co-Founder of SoftGenetics, “quite pleased to work with such a prestigious and knowledgeable organization as Mayo Clinic to create a tool that fills a gaping void in the adoption of NGS for the clinical marketplace. This tool will enable all stakeholders to take full advantage of the vast amounts of sequencing data now available with next generation sequencing technologies, while providing a mechanism to store and easily recall historical knowledge, all while speeding and lowering the cost of molecular medicine.”
Dr. Ferber and Mayo Clinic have a financial interest in the technology referenced in this news release.
Contact Information:
John Fosnacht
SoftGenetics LLC
The Oakwood Centre
Suite 350
State College PA 16803