Using Cloud-based Informatics to Study Human Genome Sequencing Data
Complete Genomics has announced that researchers can now choose to store and visualize their human genome sequencing data within the cloud-based DNAnexus platform. Furthermore, DNAnexus will host the publicly available Complete Genomics human genome public datasets and make them available as reference data to all its customers.
Through the DNAnexus platform, Complete Genomics’ customers will have access to a suite of informatics tools, which will allow them to visualize and query multiple complete human genomes and focus on relevant findings. For example, structural variations, copy number variations and small variants detected by Complete Genomics can be simultaneously visualized in the DNAnexus Genome Browser, allowing researchers to gain further insights from these important genomic elements. This new workflow was well-received by Complete Genomics customers who gained early access to the cloud-based solution as part of a beta-testing program.
“As we continue to refine our genome sequencing service, we want to make sure that our customers have access to the best tools available to interpret the rich datasets that we provide,” said Mark Sutherland, senior vice president of business development at Complete Genomics. “We have worked closely with DNAnexus to ensure that its informatics platform will support our detailed sequence data and, thus, allow our customers to capitalize on its visualization capabilities.”
Built on Amazon Web Services, DNAnexus is a universal platform for analyzing, managing and storing DNA sequencing data. DNAnexus acquires computational and storage resources on demand from Amazon, on behalf of each user, to provide scalability and pricing that mirrors usage, whether a user is investigating one or thousands of genomes.
“Like Complete Genomics, DNAnexus was founded to relieve scientists of the operational, computational and capital purchase burdens associated with advanced sequencing technologies,” said Andreas Sundquist, Ph.D., CEO of DNAnexus. “By enabling its customers to access their data via our easy-to-use, Web-based research environment, Complete Genomics is allowing them to expand their compute and storage infrastructure on demand and streamline access to the sophisticated informatics necessary to quickly access and interpret their sequencing data.”
Moving forward, DNAnexus will integrate Complete Genomics Analysis Tools (CGA Tools) functionality into DNAnexus, further enabling users to interrogate their data. The integration of the CGA Tools, an open source software project that provides solutions for downstream analysis of data produced by Complete Genomics, will allow researchers to take on complex multigenome comparisons.