Genome of Europe

The Genome of Europe initiative aims to build a European network of national genomic reference cohorts of at least 500,000 citizens. These reference cohorts will be selected to be representative of the European population.

To achieve this, each country involved will establish a population cohort that reflects the genetic composition of its population, including both healthy and diseased individuals. The country will then connect this data into a European cohort, thus establishing a collective European reference dataset.

Estonian participation

The Institute of Genomics, University of Tartu is the project partner in Estonia.

Key goals of the initiative include:

  • Creating a pan-European community of practice: Establishing a collaborative community to support the reference genome project.
  • Evaluating the long-term potential of genome sequencing in research and health care in Europe and beyond, including different sequencing technologies, also long-read sequencing, helping to uncover previously inaccessible “dark regions” of the genome.
  • Focusing on ethics, data security, and legal compliance: The project will be guided by ethical, legal, and societal considerations while upholding stringent data security standards building (inter)national guidelines for the responsible use of WGS that leads to better health care for EU citizens.
  • Embedding GoE data within Europe’s genomic data infrastructure: Integrating GoE data into the previously funded Digital Europe Programme’s Genomic Data Infrastructure (GDI) project, ensuring interoperability across initiatives.
  • Assessing GoE’s impact and usability: Through case studies, evaluating the project’s contributions to understanding genetic diversity, enabling multi-ancestry imputation, and enhancing genetic risk profiling.

Strategy

The strategic roadmap of the Genome of Europe focuses on the standardisation and harmonisation of genomic information across partners. By establishing uniform quality guidelines and ethical safeguards, the project ensures that diverse datasets can be integrated seamlessly into the broader European infrastructure. Central to this mission is the creation of clear terminology and logistical guidelines that empower data stewards to manage information flow effectively. Ultimately, these coordinated efforts aim to bridge the gap between individual national contributions and a unified, interoperable network for genomic research.