Biology/Translational Medicine

The ultimate aim of biological research is to understand disease—why and how it occurs, so that better therapeutics can be designed to treat or prevent it. Today this necessarily involves some of the most data intensive workflows in R&D. Biologists today need ways to:

• Intelligently organize, manage, and mine “big data” associated with next-generation sequencing and other high powered genomics techniques
• Simultaneously and securely query data housed in-house or available from external sources
• Retrieve data on disease-causing genes from different types of sources using a single query
• Standardize vocabularies and semantics to facilitate information flow and integration
• Support the development of a range of secure, integrated, multidomain information services that encourages translational research

Pistoia's initial working groups, SESL and sequence services, explored two key challenges within the biology domain:

• Can semantic enrichment of the scientific literature provide a mechanism to “push” relevant disease information from multiple sources to scientists seeking it (SESL)?
• Can a hosted platform provide secure access to both public and private sequencing information (sequence services)?

The Alliance is leveraging the learnings of these initial working groups in conjunction with the work of other initiatives (ELIXIR, EATRIS, SAGE, and caBIG) to create the type of secure, integrated, multidomain information services that will help organizations more successfully translate clinical outcomes into actionable information in discovery reseach, and vice versa.