Cloud-based AnVIL platform will open genomics data to everyone

The new platform, called AnVIL (Genomic Data Science Analysis, Visualization, and Informatics Laboratory Space), gives any researcher internet access to thousands of analytical tools, patient records and more than 300,000 genomes

"AnVIL upends the paradigm of genomic data sharing, providing unprecedented new opportunities for science by connecting researchers and datasets in new ways, with the promise of exciting new discoveries," said project co-leader John Hope said Michael Schatz, the Bloomberg Distinguished Professor of Computer Science and Biology at Kings University

Typically, genomic analysis begins with researchers downloading large amounts of data from a central repository 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

AnVIL will be transformative for organizations of all sizes, especially smaller ones that don't have the resources to build their own data centers

Genetic risk factors for diseases such as cancer or cardiovascular disease are often very subtle, requiring researchers to analyze the genomes of thousands of patients to uncover new associations

Additionally, many studies need to consolidate data collected by multiple institutions, which means each institution must download its own copy while ensuring the security of patient data

Schatz said: “Connecting to AnVIL remotely removes the need for large downloads and saves overhead

AnVIL also provides researchers with several major analysis tools, including Galaxy developed by Johns Hopkins University, and other popular tools such as R/Bioconductor, Jupyter Notebooks, WDLs, Gen3 and Dockstore to support interaction analytical and large-scale batch computing

Researchers from around the world currently use this platform to study a variety of genetic disorders, including autism spectrum disorders, cardiovascular disease and epilepsy

The AnVIL team has collected petabytes of data from several of the largest NHGRI projects, including hundreds of thousands from the Genotype Tissue Expression (GTEx), Center for Mendelian Genetics (CMG), and Center for Common Disease Genomics (CCDG) projects genome and plans to host more projects in the near future

Michael C.