GDI - D1.4: Genome of Europe plan

The Genome of Europe (GoE) is WG12 of the 1+MG initiative, started in 2020 and is coordinated by EMC/Netherlands (Uitterlinden, van Rooij) and UTARTU/Estonia (Metspalu, Vaht). It is aiming to deliver >500,000 whole genome sequences (WGS) as a reference database to represent genetic diversity across Europe, and was chosen as a use case in the GDI project. This deliverable for GDI is a short report on the alignment of GoE working group planning as use case with GDI. In particular we provide an update on recommendations derived from the GoE WG12 discussions regarding: a) composition of the samples contributing to GoE; b) contributions expected/requested per country regarding number of samples; c) WGS technology and data requirements; and d) sample recruitment into GoE. The recommendations will facilitate and structure further discussion and decision-making in GoE and impact the GDI project. The GoE-specific recommendations align with other existing 1+MG working groups regarding ELSI, data standards, data quality and technical infrastructure. We suggest pilot studies and use-cases derived from GoE discussions based on the data collection within GoE. The GoE pilot studies and use cases will ensure the GDI infrastructure is developed in accordance with GoE user needs. The storage of the data generated within GoE (estimated to be ~150-300 petabyte raw WGS data) but also data generated in other WG’s, is an issue that deserves close attention within GDI. We also point to –once GoE will be finished- what other datatypes will be generated as a sequela (e.g., multi-million array genotypes across various biobanks and cohort studies in WG10), and what analyses should be accommodated within the Genomic Data Infrastructure.