August 19, 2014

New Open Source Genomics Sequencing API Released

By Center for Individualized Medicine

Sequence Smarter

The Global Alliance for Genomics and Health (GA4GH) Genomics has releases a new open source Genomics API, v0.5  API, and will allow the interoperable exchange of genomic information across multiple organizations and on multiple platforms. This is a freely available open standard software for interoperability, that uses common web protocols to support serving and sharing of data on DNA sequences and genomic variation.

The API is implemented as a webservice to create a data source which may be integrated into visualization software, web-based genomics portals or processed as part of genomic analysis pipelines. It overcomes the barriers of incompatible infrastructure between organizations and institutions to enable DNA data providers and consumers to better share genomic data and work together on a global scale, advancing genome research and clinical application.

The new Genomics API is one of the first products to be developed and distributed by the Global Alliance for Genomics and Health, which was formed only one year ago and is made up of over 200 of the world’s leading biomedical research institutions, healthcare providers, information technology and life science companies, funders of research, and disease and patient advocacy organizations.

“This new Genomics API is an exciting step toward interoperability in genomic data. It advances the Global Alliance’s mission of enabling the sharing of genomic and clinical data to improve human health,” said David Haussler, Co-Chair of the Global Alliance’s Data Working Group and Scientific Director of the UC Santa Cruz Genomics Institute. “Because this new API lets researchers work consistently with genomic data across institutions and platforms, it will help realize the benefits that come from large-scale genomic data sharing, allowing us to find the needle in the haystack for patients with rare diseases.”

This new Genomics API Version 0.5 uses an open development process to allow the wider bioinformatics community to participate. While the Data Working Group has a core team of active developers, all interested developers from any institution can further engage with this platform by exploring sample apps, building implementations from scratch or from existing samples, or by providing feedback on the API and its documentation.

The newly announced Genomics API Version 0.5 builds off of the successful Version 0.1, which was also developed by members of the Data Working Group and is in use by leading organizations, including the European Bioinformatics Institute (EMBL-EBI), the U.S. National Center for Biotechnology Information (NCBI), Google, Genome Savant, and Harvard Medical School’s Biomedical Cybernetics Laboratory, powering a growing community of applications. As analysis tools adopt the new API, researchers will be able to extend their own infrastructure to utilize cloud resources, such as those available from Amazon Web Services, Google Cloud Platform, and Microsoft Azure.


Read the full press release here.


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Tags: center for individualized medicine, DNA, DNA Sequencing, dna test, DNA Testing, gene sequencing, Genetics, genome, genome science, Genome Sequencing, genomic medicine, genomics, individualized medicine, mayo clinic, personal genomics, personalized care, personalized medicine, predictive medicine, Uncategorized, whole genome sequencing

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