Appistry has introduced a new integrated suite of tools to help for-profit researchers and physicians analyse next-generation sequencing (NGS) cancer genome data.
Designed to provide high sensitivity, the Cancer Genome Analysis Suite also helps in determining low-frequency point mutations, hard-to-find discrepancies in DNA sequences.
Featuring two Broad Institute's genetic analysis tools, namely the Genome Analysis Toolkit (GATK), and MuTect, the new suite includes additional tools such as for identifying somatic indels, an Appistry-built test dataset, results summary, and Perl script.
Appistry chief scientific officer Rich Mazzarella said, "Somatic point mutations can reveal important details about how tumors form and how they evolve."
"As NGS becomes more routine and NGS data management more seamless, tools like MuTect will help physicians track low allelic fraction mutations, tie these events to disease progression and treatment responses, and improve the way cancer is fought in individual patients."
Appistry also offers complete, commercial-grade support for implementing and using the tools, including guided workflows, consistent release schedules, and extensive release testing and QA.