The Genome of Ireland project (GoI) aims to establish a unique Irish genomic cohort, representative of the Irish population. It is the Irish element of the Genome of Europe and will involve at least 1200 participants, reflecting the 1.2% Ireland makes up of the European population, factored by the target size of the larger GoE project (100,000 participants).
The GoI will be delivered through five complementary workpackages (WPs) that align with the aims and objectives of the pan-European effort and are designed to address national considerations. The WPs will 1) provide structured coordination and robust project governance, 2) involve the Irish public across the project lifecycle, 3) incorporate ethical, legal and social considerations throughout the project design, 4) implement a comprehensive, efficient and inclusive recruitment process and 5) provide FAIR whole genome sequence data from a representative cohort of individuals living on the island of Ireland. The WPs are delivered by a team that spans 5 Irish universities and 10 collaborators from the North and South of Ireland and with international analytic expertise. The resulting GoI dataset will constitute a combination of short and long-read sequence data, and include telomere to telomere assemblies in individuals of Irish-like ancestry.
In terms of use, a reference of Irish whole-genome sequences will facilitate distinction between rare, neutral variation that is specific to Ireland and pathogenic disease-causing variation. It will also provide a high-definition reference of Irish genomic diversity for research uses in ancient or modern DNA to biomedical uses across the world. The GoI will be highly relevant to Ireland’s involvement in the European Health Data Space (EHDS) and will help Ireland benefit from the 1+ Million Genomes (1MG) initiative, in terms of research funding and equity in access to personalised medicine.
