Sweden and SciLifeLab Contribute to the Genome of Europe
The most extensive EU-funded program on population genomics to date, “Genome of Europe” (GoE), has officially launched. The project will deliver a resourceful database for research and future clinical applications. SciLifeLab is contributing to GoE by establishing a new population dataset using long-read sequencing and spearheading efforts to enable federated access to genomic data across Europe.
Genome of Europe (GoE) includes 27 countries and aims to establish a unique pan-European reference database comprising of a minimum of 100,000 genomes representative of European citizens – for the benefit of personalized health care. GoE brings together the ambitions of the 1+MG (1+Million Genomes) initiative, the legal and technical framework developed by the GDI (Genomic Data Infrastructure), and genomic data providers in the participating countries. The project is backed by €45 million in funding with €20 million from the EU under the Digital Europe Programme.
In Sweden, Vinnova has provided national co-funding for the GoE project. SciLifeLab’s Genomics (NGI) and Bioinformatics (NBIS) platforms at Uppsala University will contribute population data for 2,600 Swedish individuals to the database and lead the data management tasks in GoE. As part of this initiative, long-read whole genome sequencing data will be generated for at least 1,000 individuals. Samples will be sourced from the SCAPIS biobank, a nationwide, population-based cohort for the study of the heart, vessels, and lungs, thereby creating a unique dataset for research and innovation.
”This is a fantastic opportunity to construct a new Swedish genomics resource based on long-read sequencing, a method that for the first time gives a complete view of the human genome, as well as epigenetic information,” says Adam Ameur, associate professor at SciLifeLab National Genomics Infrastructure and Uppsala University.
Enhancing the utilization and sharing of genomic data
One of the primary goals of the project is to enhance the utilization and sharing of genomic data, with a particular focus on improving future patient care. To achieve this, the project will be closely aligned with Genomic Medicine Sweden (GMS).
”The Genome of Europe is a clinically significant project that will deepen our understanding of the human genome and its variations. This advancement will result in more patients with genetic diseases receiving accurate diagnoses,” says Anna Lindstrand, Professor of Clinical Genetics at Karolinska Institutet and Chief Physician at Karolinska University Hospital.
A key aspect of the project involves making genomic data from participating European countries accessible through the new GDI infrastructure for sensitive data.
”Sweden leads the coordination of data submission into the technical infrastructure, making the description of the data discoverable and the data accessible to authorized users through secure processes, for the benefit of European citizens,” says Anna Hagwall, project manager and head of human data at the SciLifeLab Bioinformatics platform NBIS.
For more info, contact:
Adam Ameur
Associate professor at SciLifeLab National Genomics Infrastructure and Uppsala University
adam.ameur@igp.uu.se
Anna Lindstrand
Professor of Clinical Genetics at Karolinska Institutet and Chief Physician at Karolinska University Hospital
anna.lindstrand@ki.se
Bengt Persson
Professor at the Department of Cell and Molecular Biology (UU) and Director of the SciLifeLab Bioinformatics platform NBIS
bengt.persson@icm.uu.se
Anna Hagwall
Project manager and head of human data at the SciLifeLab Bioinformatics platform NBIS
anna.hagwall@icm.uu.se
