ELIXIR talk – session: ELIXIR – Human genomics and translational data.
Abstract
Research in biomedical sciences aims ultimately at curing diseases and improving quality of life. Successful research on the field requires the use of human data of various types, such as genetic, environmental and behavioral data. Moreover, the research groups are typically international and also the data is collected from various sources in different countries. There is great potential for scientific breakthroughs in advanced use of the different types of human data. However, in most cases the data contains personal identifiable information that must be treated according to strict regulations and ethical guidelines to protect the privacy of individuals. Thus, cross-border services for facilitating safe use and management of sensitive data are needed. The ELIXIR Nodes in Finland, Denmark, Norway and Sweden have joined forces in developing secure IT infrastructure services for human data. With the support of NeIC – Nordic e-Infrastructure Collaboration – the work has been organised as a three-year Tryggve project. The targets of the project include to provide researchers with a trusted set of services for storing and processing sensitive biomedical data in cross-border research projects in Nordics and beyond. In the end, the project aims to produce solutions that are applicable for the wider ELIXIR community beyond the initially participating countries. The main objectives of the project consist of improving mobility of sensitive human data, mobility of users, and mobility of tools across countries and across platforms. This means that human data should not only be possible to move and combine between countries, but also the processing tools used can be moved conveniently to the system the user wants to utilise. This approach can also support workflows in which the data is stored at separate systems and can not be transferred to a single location, for example due to practical challenges (not feasible to use very large data sets), or to legal restrictions (data not allowed to be moved). Currently the four participating ELIXIR nodes each provide a data and computing environment suitable for human data processing. The secure systems affiliated are TSD in Norway, Mosler in Sweden, ePouta in Finland, and Computerome in Denmark. The systems share some common features, but there are also significant differences. TSD and Mosler provide a virtual desktop through which the users access the system. ePouta is a secure cloud that offers Infrastructure as a Service for end users and aimed for institutions or large research collaborations.. Computerome has a virtual desktop for the users, but also accommodates private virtual clusters similar as in ePouta. All of these are in production and being used for biomedical research. The Tryggve collaboration has enabled cost-free pilot access to the above mentioned secure systems as additional benefit for research projects. There is a continuously open call for use cases on sensitive data for research teams from the co-funding countries. The service for researchers include access and allocation of resources on the secure system of choice during the pilot project, consultation on ethical and legal issues, support in moving the data to selected location for processing, or moving to archival after the pilot, support in installing software pipelines on the systems when needed, and support in using the services. The main use case so far supported by the project is a cross-border study for risk of schizophrenia and corresponding gene-environment interactions. The same support is available for all research, also outside pilot projects, although the service providers place reasonable fees to cover their expenses. However, the tools and solutions developed in the project are provided for the wider community as open source code when possible or eventually they may become services based at the ELIXIR nodes. Also, the reports and documents of the project are generally publicly distributed on project’s web site and available for the wider community. The Nordic collaboration on the area of human data aims to further coordinate its actions with wider ELIXIR developments. For instance, topics such as authentication and authorization infrastructure (AAI), archival of human data based on EGA and Local EGA’s, as well as ethical issues are fields that have potential for coordinated efforts. In summary, the Tryggve outcomes demonstrate the feasibility of developing and providing cross-border services for research on sensitive data.
References:
– Tryggve project, https://wiki.neic.no/tryggve
– TSD, https://www.uio.no/english/services/it/research/storage/sensitive-data/
– Mosler, http://nbis.se/infrastructure/mosler.html
– ePouta, https://research.csc.fi/epouta
– Computerome, https://computerome.dtu.dk/
Authors
Antti Pursula, CSC – IT Center for Science Ltd, Finland
Maria Francesca Iozzi, USIT, University of Oslo, Norway
Niclas Jareborg, NBIS National Bioinformatics Infrastructure Sweden, Sweden
Ali Syed, Center for Biological Sequence Analysis, DTU, Denmark