N-of-One Launches ‘Variant Interpreter™’ App to Provide Easy Access to Molecular Interpretation of Next Generation Sequencing Data

12 Mar 2014
Sarah Thomas
Associate Editor

N-of-One, Inc., the leading provider of molecular interpretation for personalized medicine in cancer, today announced that it has launched Variant Interpreter™ on Illumina’s BaseSpace Apps, Illumina’s dedicated applications store and informatics community dedicated to advancing genomic analysis.

The Variant Interpreter™ app, which is cloud based, allows oncologists and researchers to access relevant biological and clinical knowledge and insights related to the mutation profile of a tumor identified by targeted sequencing. Initial release will cover 30 prevalent cancer associated genes that are commonly tested. Future releases will include additional genes. This app links the results of sequencing to published cutting-edge, disease-specific research and analysis of cancer.

“N-of-One unleashes the power of next generation sequencing (NGS) for oncologists, pathologists and researchers by providing the latest published clinical and scientific knowledge associated with NGS data from each tumor,” said Chris Cournoyer, Chief Executive Officer of N-of-One. “Variant InterpreterTM is N-of-One’s first app in the cloud, demonstrating that our services and content can be deployed in a variety of ways to meet evolving markets needs. We plan on introducing other apps in conjunction with Illumina's evolving portfolio.

Using this app, oncologists, pathologists and researchers can quickly request a molecular interpretation of a variant or multiple variants in a tumor using convenient drop-down menus in a familiar app format, and rapidly receive a customized interpretative roadmap linking the variant data to scientific knowledge.

To use the Variant Interpreter app, the user selects a tumor type plus one or more variants to be interpreted from the drop-down menus. Also for each variant, N-of-One supplies a summary on the effect of the variant, incidence of mutations in this tumor type and the role this mutation may play in the tumor.

Informatics solutions available through BaseSpace Apps allow customers to utilize the tools from a growing community of academic, commercial, and open source providers.

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