Poster Number
34
Poster Title
The Swedish node in the European 1+ Million Genomes Initiative
Authors
Bengt Persson1, Anna Hagwall1, Johan Viklund1, Richard Rosenquist2, Per Sikora3, Anders Edsjö4, Manólis Nymark5 and Malin Eklund6
1National Bioinformatics Infrastructure Sweden (NBIS), SciLifeLab, Uppsala University, Sweden; 2Genomic Medicine Sweden, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden; 3Genomic Medicine Sweden, University of Gothenburg, Sweden; 4Genomic Medicine Sweden, Region Skåne, Lund University, Sweden; 5Manolis Nymark Consulting, Enköping, Sweden; 6Swedish Innovation Agency Vinnova, Stockholm, Sweden.
1National Bioinformatics Infrastructure Sweden (NBIS), SciLifeLab, Uppsala University, Sweden; 2Genomic Medicine Sweden, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden; 3Genomic Medicine Sweden, University of Gothenburg, Sweden; 4Genomic Medicine Sweden, Region Skåne, Lund University, Sweden; 5Manolis Nymark Consulting, Enköping, Sweden; 6Swedish Innovation Agency Vinnova, Stockholm, Sweden.
Abstract
The European 1+ Million Genomes (1+MG) Initiative aims to enable federated and secure access to genomics and corresponding clinical data across Europe. This effort supports improved research, equitable access to personalised healthcare and informed health policy-making. Currently, 25 EU countries plus United Kingdom and Norway take part in the initiative. Several EU-funded projects, co-financed by member states, are contributing to the development of the digital infrastructure, e.g. GDI (Genomic Data Infrastructure), GoE (Genome of Europe) and B1MGplus (Beyond1MillionGenomes plus). The infrastructure utilises international standards, of which many originate from GA4GH.
The Swedish 1+MG node builds on the foundation laid by the SciLifeLab Bioinformatics Platform NBIS (National Bioinformatics Infrastructure Sweden and also the ELIXIR-SE node) and Genomic Medicine Sweden (GMS) which is a national genomics infrastructure supporting personalised medicine. NBIS will host the Swedish front-end, 1+MG-SE, together with hosting of data originating from universities, while GMS will host data originating from the healthcare regions, using the National Genomics Platform (NGP). The 1+MG-SE node will point to the GMS-hosted node for their data, enabling a unified Swedish front-end in 1+MG, even though data are stored at different sites.
As part of the 1+MG GDI project, NBIS, supported by GMS, is actively contributing to the establishment of a Genome EDIC (European Digital Infrastructure Consortium) as the legal entity supporting complex European multi-country co-operation like 1+MG.
Furthermore, to cater for the needs of publishing sensitive genome sequence data, NBIS has established the Swedish node in the international infrastructure Federated European Genome-phenome Archive (FEGA), with a help desk to provide data management support to users. The federated framework with national nodes, where metadata (data about data) are stored centrally, while datasets are stored locally and accessible only with proper agreements, offers a robust solution for international secure data access within the current legal framework.
The Swedish 1+MG node builds on the foundation laid by the SciLifeLab Bioinformatics Platform NBIS (National Bioinformatics Infrastructure Sweden and also the ELIXIR-SE node) and Genomic Medicine Sweden (GMS) which is a national genomics infrastructure supporting personalised medicine. NBIS will host the Swedish front-end, 1+MG-SE, together with hosting of data originating from universities, while GMS will host data originating from the healthcare regions, using the National Genomics Platform (NGP). The 1+MG-SE node will point to the GMS-hosted node for their data, enabling a unified Swedish front-end in 1+MG, even though data are stored at different sites.
As part of the 1+MG GDI project, NBIS, supported by GMS, is actively contributing to the establishment of a Genome EDIC (European Digital Infrastructure Consortium) as the legal entity supporting complex European multi-country co-operation like 1+MG.
Furthermore, to cater for the needs of publishing sensitive genome sequence data, NBIS has established the Swedish node in the international infrastructure Federated European Genome-phenome Archive (FEGA), with a help desk to provide data management support to users. The federated framework with national nodes, where metadata (data about data) are stored centrally, while datasets are stored locally and accessible only with proper agreements, offers a robust solution for international secure data access within the current legal framework.