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Published November 2015 | public
Journal Article

The NIH BD2K center for big data in translational genomics


The world's genomics data will never be stored in a single repository – rather, it will be distributed among many sites in many countries. No one site will have enough data to explain genotype to phenotype relationships in rare diseases; therefore, sites must share data. To accomplish this, the genetics community must forge common standards and protocols to make sharing and computing data among many sites a seamless activity. Through the Global Alliance for Genomics and Health, we are pioneering the development of shared application programming interfaces (APIs) to connect the world's genome repositories. In parallel, we are developing an open source software stack (ADAM) that uses these APIs. This combination will create a cohesive genome informatics ecosystem. Using containers, we are facilitating the deployment of this software in a diverse array of environments. Through benchmarking efforts and big data driver projects, we are ensuring ADAM's performance and utility.

Additional Information

© 2015 The Author. Published by Oxford University Press on behalf of the American Medical Informatics Association. First published online: 14 July 2015. We would like to thank the reviewers for their helpful comments and suggestions. Funding: This work was supported by the National Human Genome Research Institute of the National Institutes of Health under Award Number U54HG007990. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Contributors: BP and DH wrote the manuscript with assistance from other authors. FN and MS created the figures. All the authors edited the manuscript.

Additional details

August 20, 2023
October 23, 2023