Biobank Metaportal to Enhance Collaborative Research: sail.simbioms.org

Abstract

In order to identify new ways to prevent, diagnose and treat diseases, biobanks systematically collect samples of human tissues and population-wide data on health and lifestyle. Efficient access to population biobank data and to biomaterial is crucial for development and marketing of new pharmaceutical products, especially in the area of personalised medicine. However, such access is hindered by legal and ethical constraints, and by the huge semantic diversity across different biobanks. To address these challenges, we have developed SAIL, a sophisticated metaportal for biobank data annotation across different collections and repositories, harmonised to allow cross-biobank searchability, while preserving the anonymity and privacy of the underlying data such that legal and ethical requirements are met. We describe the technological architecture and design of SAIL that allows us to meet these pressing challenges, and give an overview of the current functionality of the application. SAIL is available online at sail.simbioms.org, and it currently contains around 200 000 samples from 14 collections.

Keywords

• resource discovery
• Biobanks
• Semantics
• metadata
• Ontologies
• Biomedicine