Programa i resums de les comunicacions

The EGA archives and distributes mainly genomic and phenotypic human data in an encrypted and secure manner; files are shared upon the authorisation of the relevant Data Access Committee (DAC). Given the heterogeneous profile of EGA users, an important variety and granularity of services and tools are required. On one hand, small data submissions and individual researchers appreciate user-friendly interfaces and data management approaches. Whilst larger complex projects and international consortia require a more technical approach. During the presentation we will provide the audience with a brief overview of how all of these varying requirements by EGA users are addressed. The EGA Beacon is able to highlight existing variants within a dataset and the possibility to retrieve information from samples or experiments registered at the EGA will be described. In addition, the necessary technologies for data visualisation, such as data access API and htsget will be seen in the context of RD-Viz, a portal for visualisation of rare disease files. Federation of data silos and repositories is increasingly seen as a necessity within the omics services, specially when inter-related to health initiatives. Local EGA is one of the approaches expected to be implemented across Europe and worldwide. The last steps of this community effort are to be presented during the talk, as well. Finally, from the submitter perspective, we will cover both the new, powerful and intuitive Submitter Portal as well as the submission API, which enables programmatic metadata submission and standardisation.