REDWOOD CITY, Calif., Nov. 6, 2012 /PRNewswire/ -- Ingenuity® Systems, a leading provider of biomedical information and analysis solutions, today highlighted strong adoption of its Variant Analysis platform at the American Society of Human Genetics Annual Meeting in San Francisco. Variant Analysis, a web-based analysis application, answers a critical need for researchers trying to rapidly identify relevant casual variants in human diseases from re-sequencing data.
Over the past 6 months the number of users and samples uploaded into Ingenuity Variant Analysis has grown 250% month-over-month and today 1,100 users are actively working on whole genome and exome projects ranging from individual genomes to thousands of genomes. The users represent over 500 leading institutions and drug discovery companies studying all stages of basic, translational and clinical research.
"All of us need help interpreting DNA sequence variation in the context of the world's literature and rapidly evolving databases," said David M. Margulies, MD, Executive Director, Gene Partnership, Children's Hospital Boston and member of Faculties of Genetics, Bioinformatics, and Developmental Medicine, Harvard Medical School. "Ingenuity's rigorous methods for curating variant information and its deep capabilities in relating sequence and expression data to underlying pathways are invaluable to us as we seek to understand the contribution of sequence variation to disease in both clinical and discovery scenarios."
"The interpretation of human genomes for medical and biological relevance is a major challenge. Variant Analysis has proven to be a helpful tool to contribute to the interpretation of our exome sequencing-based studies," stated Estelle Chanudet-van den Brink, PhD, Senior Research Associate, GOSgene, University College of London. "We tested it in the context of 9 different rare genetic conditions (73 samples total), including various modes of inheritance. We found the process intuitive and the analytic parameters pragmatically fitted to the diversity of our data. The access to rich biological content, that leverages information on pathways and disease models, was particularly useful to support the prioritization of variants for further analyses. We are now extending the use of Variant Analysis to additional cohorts of patients (250 samples)."
"Increasing access to the unique content and intuitive graphical user interface in Variant Analysis allowed us to quickly identify variants of interest in our sequencing data on muscular dystrophy," said Susan Dorsey, PhD, RN, FAAN, Associate Dean for Research, University of Maryland. "In a matter of hours, we were able to quickly learn how to use the tool and obtain preliminary results. I anticipate that we will be working with the company and its tools for years to come."
Further, at ASHG this week in San Francisco, attendees will have will have the opportunity to demo Variant Analysis in the Ingenuity booth #1101 or through its integration into third-party applications such as Ion Torrent's Ion Reporter and Illumina's BaseSpace.
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