Creation of Johns Hopkins-led team allows worldwide scientific collaboration for studies of human genetics and health

Harnessing the power of genomics to find risk factors for major diseases or search for relatives relies on the costly and time-consuming ability to analyze huge numbers of genomes. A team co-led by a Johns Hopkins University computer scientist has leveled the playing field by creating a cloud-based platform that grants researchers easy access to one of the world’s largest genomics databases.

Known as AnVIL (Genomic Data Science Analysis, Visualization, and Informatics Lab-space), the new platform gives any researcher with an Internet connection access to thousands of analysis tools, patient records, and more than 300,000 genomes. The work, a project of the National Human Genome Institute, appears today in Cell Genomics.

“AnVIL is inverting the model of genomics data sharing, offering unprecedented new opportunities for science by connecting researchers and datasets in new ways and promising to enable exciting new discoveries,” said project co-leader Michael Schatz, Bloomberg Distinguished Professor of computer science and biology at Johns Hopkins.

Michael Schatz
Bloomberg Distinguished Professor

Typically, genomic analysis starts with researchers downloading massive amounts of data from centralized warehouses to their own data centers, a process that is not only time-consuming, inefficient, and expensive, but also makes collaborating with researchers at other institutions difficult. Genetic risk factors for ailments such as cancer or cardiovascular disease are often very subtle, so researchers must analyze thousands of patients’ genomes to discover new associations. The raw data for a single human genome comprises about 40GB, so downloading thousands of genomes to conduct such research can take takes several days to several weeks.

“AnVIL will be transformative for institutions of all sizes, especially smaller institutions that don’t have the resources to build their own data centers. It is our hope that AnVIL levels the playing field, so that everyone has equal access to make discoveries,” Schatz said.

In addition, studies requiring the integration of data collected at multiple institutions means each institution must download its own copy while ensuring that patient-data security is maintained. This challenge is expected to become even greater in the future, as researchers embark on ever-larger studies requiring the analysis of hundreds of thousands to millions of genomes at once.