Cambridge, Mass. June 23rd, 2015 —Broad Institute of MIT and Harvard is teaming up with Google Genomics to explore how to break down major technical barriers that increasingly hinder biomedical research by addressing the need for computing infrastructure to store and process enormous datasets, and by creating tools to analyze such data and unravel long-standing mysteries about human health.
As a first step, Broad Institute’s Genome Analysis Toolkit, or GATK, will be offered as a service on the Google Cloud Platform, as part of Google Genomics. The goal is to enable any genomic researcher to upload, store, and analyze data in a cloud-based environment that combines the Broad Institute’s best-in-class genomic analysis tools with the scale and computing power of Google.
GATK is a software package developed at the Broad Institute to analyze high-throughput genomic sequencing data. GATK offers a wide variety of analysis tools, with a primary focus on genetic variant discovery and genotyping as well as a strong emphasis on data quality assurance. Its robust architecture, powerful processing engine, and high-performance computing features make it capable of taking on projects of any size.
GATK is already available for download at no cost to academic and non-profit users. In addition, business users can license GATK from the Broad. To date, more than 20,000 users have processed genomic data using GATK.
The Google Genomics service will provide researchers with a powerful, additional way to use GATK. Researchers will be able to upload genetic data and run GATK-powered analyses on Google Cloud Platform, and may use GATK to analyze genetic data already available for research via Google Genomics. GATK as a service will make best-practice genomic analysis readily available to researchers who don’t have access to the dedicated compute infrastructure and engineering teams required for analyzing genomic data at scale. An initial alpha release of the GATK service will be made available to a limited set of users.
The partners have made available “GATK Best Practices,” workflow descriptions with step-by-step recommendations for getting the best analysis results from high-throughput sequencing data. Workflows are available for variant discovery in both DNA-Seq and RNA-Seq.
“Large-scale genomic information is accelerating scientific progress in cancer, diabetes, psychiatric disorders, and many other diseases,” said Eric Lander, President and Director of Broad Institute. “Storing, analyzing, and managing these data is becoming a critical challenge for biomedical researchers. We are excited to work with Google’s talented and experienced engineers to develop ways to empower researchers around the world by making it easier to access and use genomic information.”
“Broad and Google share a culture of collaboration and open access to data,” said David Glazer, Director of Google Genomics. “Google Genomics is helping scientists make genomic information more accessible and useful. By making Broad’s GATK available through the Google Cloud Platform, we hope to accelerate great science.”
Broad Institute plans to continue to support and upgrade GATK for all users, both on site and on the cloud, and will continue to offer the software directly. Academic and non-profit users will continue to have free access to GATK just as they do today through broadinstitute.org/gatk. Business users will continue to be able to license GATK through the Broad directly. By offering GATK on the Google Cloud Platform, users will have another option that could eliminate the need for labs to develop additional computing infrastructure on site.
Broad Institute is a founding host institution of the Global Alliance for Genomics and Health (GA4GH), which was established in 2013 to build a shared framework to enable genomic and clinical data sharing while ensuring data privacy and security as genomic research continues to evolve. Google joined the Alliance in early 2014. Services available through the Broad and Google collaboration will be specifically designed to align with existing and emerging GA4GH standards.
In keeping with the Broad’s mission to foster openness and innovation, this collaboration will be non-exclusive. Broad and Google will each continue to engage with other community members on genomic projects to empower research worldwide.
About the Broad Institute of MIT and Harvard
The Eli and Edythe L. Broad Institute of MIT and Harvard was launched in 2004 to empower this generation of creative scientists to transform medicine. The Broad Institute seeks to describe all the molecular components of life and their connections; discover the molecular basis of major human diseases; develop effective new approaches to diagnostics and therapeutics; and disseminate discoveries, tools, methods and data openly to the entire scientific community.
Founded by MIT, Harvard and its affiliated hospitals, and the visionary Los Angeles philanthropists Eli and Edythe L. Broad, the Broad Institute includes faculty, professional staff and students from throughout the MIT and Harvard biomedical research communities and beyond, with collaborations spanning over a hundred private and public institutions in more than 40 countries worldwide. For further information about the Broad Institute, go to broadinstitute.org.
Source – Broad Institute