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 in
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