MOUNTAIN VIEW, Calif.--(BUSINESS WIRE)--DNAnexus, the global leader in cloud-based genome informatics and data management, today announced its support for, and contribution to, the precisionFDA Consistency Challenge. PrecisionFDA is a community platform for next-generation sequencing (NGS) assay evaluation and regulatory science exploration that was established by the U.S. Food and Drug Administration’s Office of Health Informatics.
Announced on February 25, 2016 as part of President Barack Obama's Precision Medicine Initiative, the goal of the precisionFDA Consistency Challenge is to engage genomics innovators to improve reproducibility and accuracy of NGS pipelines in order to achieve more consistent results from genetic tests and advance precision medicine.
Winners* will be selected in eight categories judged by the reproducibility and accuracy of their comparisons. The challenge will run from February 25 to April 25.
"To date, precisionFDA hosts more than 1,000 community members on the precisionFDA platform representing nearly 500 organizations," according to Richard Daly, CEO of DNAnexus. "We are extremely proud to develop the platform for this initiative and to help bring about the promises of precision medicine by contributing our science and technology expertise."
Bringing the genomics community together around a cloud-based genomics platform where researchers can experiment, share data and tools, collaborate, and define standards for evaluating analytical pipelines is a new approach developed by the Office of Health Informatics under Taha A. Kass-Hout, M.D., M.S., Chief Health Informatics Officer and Director of FDA’s Office of Health Informatics for accelerating precision medicine.
The challenge begins with two precisionFDA-provided input datasets, corresponding to whole-genome sequencing of the NA12878 human sample at two different sequencing sites. Participants are to process these FASTQ files through their own mapping and variation calling pipeline to create VCF results. For one of the datasets, participants are required to do a rerun of their pipeline and obtain a rerun VCF as well. Participants can generate those results on their own environment, and upload them to precisionFDA, or they can reconstruct their pipeline on precisionFDA and run it on the cloud. The challenge provides a common frame of reference for measuring aspects of reproducibility and accuracy of the participant’s pipeline. Instructions for constructing pipelines on the system can be found at https://precision.fda.gov/about/how#dev.
*Winning a precisionFDA category is an acknowledgement by the precisionFDA community and does not imply FDA endorsement of any organization, tool, software, etc.
DNAnexus combines expertise in cloud computing and bioinformatics to create the global network for genomics, operating in North America, Europe, Asia-Pacific (including China), South America, and Africa. The secure, scalable, and collaborative cloud-based DNAnexus Platform helps thousands of researchers across a spectrum of industries – biopharmaceutical, bioagricultural, sequencing services, clinical diagnostics, government, and research consortia – accelerate their genomics programs globally. For more information on DNAnexus, please visit www.dnanexus.com or follow the company @DNAnexus.