By using AWS and GenePool, Drs. Martignetti and Dottino can now rapidly mine thousands of patient records from The Cancer Genome Atlas projects and identify genetic aberrations in a number of novel candidate genes fitting their scientific hypothesis. By cross-referencing these candidate genes against other genomics data, Drs. Martignetti and Dottino were able to enrich the candidate gene list for new potential markers for hereditary breast and ovarian cancers.

“Before the AWS Cloud, we didn’t have a way to analyze such a huge data set with our external collaborators,” Martignetti says. “It wouldn’t have been possible to sift through the data in a meaningful way, analyze it, refilter it—all of that is critical to our efforts to find the missing links.”

Building GenePool on AWS gave Station X the ability to store data sets for our translational and clinical genomics customers, Sanga says. “We get a significant competitive edge by using AWS: fast data access, ample storage, and massive computing power,” he adds. “When it comes to research projects like this, we’ll never be done. There will always be more data to analyze. So even when we help researchers come to scientific conclusions, there’s always more to learn. By using AWS, we’re well positioned for the challenge.”

Without the ability to run this analysis in a secure way on the AWS Cloud, the physicians at Mount Sinai would not be able to further their research. “By using AWS, we can store source files securely and cost-effectively with significant durability and accessibility. We wouldn’t be able to conduct our research without it,” Martignetti says. “But by using AWS and GenePool, we hope to discover mutations that prove to be the missing links for why some women are at increased risk for developing these cancers.”