CHARGE-ing Ahead After ASHG

AWS, HGSC & DNAnexus collaborationAfter last week’s ASHG frenzy, we could use a week off! But we’re so inspired by the positive response to the DNAnexus cloud computing platform that we are back in the office and digging right in.

Our big story at the conference was about our collaboration with Baylor’s Human Genome Sequencing Center (HGSC) and Amazon Web Services, enabling the largest genomic analysis project to have ever taken place in the cloud. Working together we proved the cloud’s efficacy for massive-scale data analysis for the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium by porting HGSC’s variant-calling Mercury pipeline onto our platform to interrogate more than 14,000 exomes and genomes. Not only is it a great example of how DNAnexus can be used, but also the Baylor scientists opted to make the pipeline available to all DNAnexus users at no extra cost.

Our ASHG workshop session focused on this HGSC case study, with speakers Jeff Reid from Baylor College of Medicine and our own Andreas Sundquist and Andrew Carroll sharing some technical details about the project. We want to thank all of the scientists who packed the workshop room and offered us valuable feedback on their own cloud computing needs.

Separately, Jeff Reid spoke about the Mercury pipeline and DNAnexus in a program session called “Mo’ Data, Mo’ Problems.” Jeff’s talk was well received (blowing up the #ASHG2013 Twitter feed last Friday beginning at 9:48am EST) and sparked great discussion around the need for the scientific community to embrace a centralized environment to enable collaboration on biological questions rather than on building siloed computational infrastructure. During Q&A, one scientist asked Jeff if a pipeline for RNA-seq was in the works, and he said that an RNA-seq parallel to the Mercury pipeline is currently being developed to port on to DNAnexus for public use.

We also want to thank everyone who made our experience at ASHG so rewarding, including all the scientists who stopped by our booth — many of whom were drawn in by our new Genomics Cloud Computing Infographic visualizing the details of the Baylor HGSC case study. We had great conversations with our visitors and came away with useful intel about how our platform-as-a-service can support other genomics industry needs.

If you missed ASHG or have more questions about CHARGE and how the Mercury pipeline can help you, check out this use case or read related news reports from FierceBiotechIT or Genomeweb.