The aim of this Implementation Study was to use the existing, genome related datasets from the areas of clinical and population genetics, cancer genomics and nonhuman genome analysis to drive the refinement of the Global Alliance for Genomics and Health (GA4GH) data schema (documents) as well as to implement compatible example resources. A GA4GH compatible version of the arrayMap resource, a large repository of genomic copy number aberration data in human malignancies, will be created.
BioSamples and Ontology Lookup Service (OLS) supply data-ontology mapping services and ontology access via a new version of OLS. This task interacts with and supports the ELIXIR Beacon project, especially regarding the design and technical implementation of extended Beacon query and report formats (including quantitative return and metadata enrichment).
This study is now completed, the work is outlined in the end report and was presented at a number of meetings (see the slides).