Health IT, Diagnostics

Broad Institute partners with Amazon, Google, IBM to bring genome analysis software to the cloud

The Broad Institute plans to develop and roll out GATK4, the next generation version of Genome Analysis Toolkit. The new service will include cancer, structural variation, copy number variation and related functionality.

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Cambridge’s Broad Institute is bringing its Genome Analysis Toolkit to the cloud — partnering with Amazon Web Services, Cloudera, Google, IBM, Intel and Microsoft.

The toolkit, shortened to GATK, is a software package developed by the Harvard-MIT institute to analyze high-throughput sequencing data. Since its alpha roll out last year on Google Genomics, it has gained about 31,000 registered users worldwide. With this new partnership, it’ll be available as a SaaS format (software as a service), so that users can expand beyond the desktop.

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It plans to develop and roll out GATK4, the next generation version of GATK. The new service will include cancer, structural variation, copy number variation and related functionality.

“Improving the GATK is no longer just about enhancing variant discovery and genotyping — it’s about removing the technical barriers that can stand in the way of tackling ambitious projects at scale,” the Broad Institute said in a release.

Also of note: Broad engineers are working with Intel to speed variant detection and biomarker discovery.

“Orchestrating genomic workflows at cloud scale is complex,” Eric Banks, creator of the GATK software package at the Broad, said in a statement. “We wanted to simplify the execution of common genomic data types like reads and variants and to create an environment that allows any researcher to do this at scale in an easy-to-use way.”

David Glazer, director of Google Genomics, said in a release that GATK has proven successful for its service.

“We have run many thousands of samples through this pipeline for a variety of users,” he said. “We’ve also optimized the pipeline to make it remarkably cost effective.”

[Photo from Flickr user Micah Baldwin]

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