mutation-disease association

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FDA to Advance Precision Medicine by Enabling Open Source Collaborative Informatics

FDA plays an integral role in President Obama’s Precision Medicine Initiative, which foresees the day when an individual’s medical care will be tailored in part based on their unique characteristics and genetic make-up. Yet while more than 80 million genetic variants have been found in the human genome, we don’t understand the role that most of these variants play in health or disease. Achieving the President’s vision requires working collaboratively to ensure the accuracy of genetic tests in detecting and interpreting genetic variants. We are working towards that goal by developing an informatics community and supporting platform we call precisionFDA.

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PrecisionFDA: A Community Approach For Submitting & Evaluating Diagnostic Tests

DNAnexus has been awarded a research and development contract by the FDA’s Office of Health Informatics to build precisionFDA, an open source platform for community sharing of genomic information. precisionFDA is a new approach for evaluating bioinformatics workflows, and is an integral part of FDA’s work in better understanding diagnostic tests that incorporate next-generation sequencing (NGS) technologies. As a component of the White House’s Precision Medicine Initiative, precisionFDA’s streamlined approach to evaluating NGS-based diagnostics and creation of reference datasets will build a community around best-practices resources and democratize the submission process to the FDA.

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