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Ingenuity Systems Announces Curation of All Human Disease Implicated Genetic Variation


2/20/2013 10:32:25 AM

REDWOOD CITY, Calif., Feb. 20, 2013 /PRNewswire/ -- Ingenuity® Systems, a leading provider of biomedical information and analysis solutions, today announced that the company will complete comprehensive curation of all human phenotype-implicated mutations in the peer-reviewed biomedical literature. The comprehensive curation of hereditary, cancer and pharmacogenetic mutations will be integrated into the Ingenuity Knowledge Base and made available in Ingenuity® Variant Analysis, a web-based analysis application that enables rapid identification of causal variants for human diseases from sequencing data.

"Human genome interpretation requires up-to-date, accurate and comprehensive information on populations' variant frequencies, causal network interactions, curated disease models and evidence from the biomedical literature in order to establish strong links from variants, genes and pathways to diseases and optimal treatment," said Dr. Christopher E. Mason, Assistant Professor, Weill Cornell Medical College. "Ingenuity's commitment to provide ready access to high-quality, comprehensive and structured biomedical content will enable us to achieve the next level of fast, in-depth genome interpretation that is so critical to unlocking the full potential of personalized and precision medicine."

The Ingenuity Knowledge Base is a 14 year effort to accurately, manually curate and computationally structure the biomedical literature, all human disease implicated variants and the thousands of disease models all of which are critical for the interpretation of NGS sequence data and the clinical assessment of variants observed in molecular diagnostic panels.

"This game-changing effort to richly curate and structure all published mutations has been underway for years," said Dr. Doug Bassett, Ingenuity Systems, Chief Scientific Officer and Chief Technical Officer. "We are very close to completing the curation of all hereditary, pharmacogenetic and cancer mutations this year and then will maintain up-to-date coverage going forward. Millions of expert-curate findings from the biomedical literature are already available to users of Variant Analysis establishing rich relationships between and among variants, genes, protein and therapies to enable rapid identification of causal and actionable variants."

About Ingenuity® Systems

Ingenuity® Systems is a leading provider of biomedical information and analysis solutions for the exploration, interpretation and analysis of complex biological systems in life science research and molecular diagnostics. Today, Ingenuity's solutions are used by tens of thousands of researchers and clinicians at hundreds of leading pharmaceutical, biotechnology, academic, diagnostic and clinical institutions worldwide.

SOURCE Ingenuity Systems



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