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Mayo, SoftGenetics to Collaborate on Clinical NGS Workbench

NEW YORK (GenomeWeb News) – SoftGenetics said Monday that it is collaborating with the Mayo Clinic to develop a web-based workbench for clinical researchers and geneticists to visualize, interpret, and analyze next-generation sequence data.

The State College, Penn.-based bioinformatics company said that the tool, dubbed Geneticist Assistant, will accept data from all sequencing platforms, provide tools for data quality control, and allow users to maintain records of their conclusions for future reference.

The tool will help users identify pathogenic variants that are associated with diseases such as hereditary colon cancer. It also will be able to annotate variants using information from resources such as the Catalogue of Somatic Mutations in Cancer, or COSMIC, and the Database of Nonsynonymous SNPs and their Functional Predictions, or dbNSFP, SoftGenetics said.

Matthew Ferber, an assistant professor of laboratory medicine and pathology at the Mayo Clinic, said in a statement that the partners hope their collaboration results in an informatics tool that provides diagnostic labs with "an off-the-shelf solution" for NGS data analysis, annotation, quality control, interpretation, and reporting.

He noted that the "successful implementation" of next-generation sequencing in clinical laboratories depends on the availability of new software tools which are becoming an "integral part" of diagnostic tests, although their development has "lagged behind."