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.

[1]  Up Date , 1982 .

[2]  Roy T. Fielding,et al.  Principled design of the modern Web architecture , 2000, Proceedings of the 2000 International Conference on Software Engineering. ICSE 2000 the New Millennium.

[3]  International Human Genome Sequencing Consortium Initial sequencing and analysis of the human genome , 2001, Nature.

[4]  Terrence S. Furey,et al.  The UCSC Genome Browser Database , 2003, Nucleic Acids Res..

[5]  Mary Goldman,et al.  The UCSC cancer genomics browser: update 2011 , 2010, Nucleic Acids Res..

[6]  David A. Patterson,et al.  ADAM: Genomics Formats and Processing Patterns for Cloud Scale Computing , 2013 .

[7]  Joshua M. Stuart,et al.  The Cancer Genome Atlas Pan-Cancer analysis project , 2013, Nature Genetics.

[8]  Ian M. Mitchell,et al.  Best Practices for Scientific Computing , 2012, PLoS biology.

[9]  K. Yamamoto,et al.  GLOBAL ALLIANCE FOR GENOMICS AND HEALTH , 2015 .

[10]  Mary Goldman,et al.  The UCSC Cancer Genomics Browser: update 2015 , 2014, Nucleic Acids Res..

[11]  D. Karolchik,et al.  The UCSC Genome Browser database: 2016 update , 2015, bioRxiv.