WP6 will establish the envisaged applications of GoE, through a series of pilot studies that demonstrate and assess practicality of specific applications of study data. The scale of the GoE project will enable the delivery of an exceptionally thorough database of human genetic variation, with the possibility to observe differences in allele frequencies across different regions of Europe.

To promote equity in genomic medicine for all citizens, including diverse ancestries, it is crucial to understand the patterns of genetic variation for alleles where differences can have major health impacts. Hence, a particular interest will be the identification and mapping of allele frequency distributions across diverse European populations of variants with relevant diagnostic, prevention or therapeutic impacts, including variants in clinically actionable disease genes and pharmacogenes

Also, applying long-read (lr) sequencing technologies we will start with a first large-scale epigenome dataset in more than 5000 individuals across different European populations.

We describe five tasks corresponding to use cases and pilots for the project period, and a sixth dedicated to longer-term applications. All use cases and pilots will be co-designed with the other WPs (specifically WP3 and WP4), to ensure these  best demonstrate the richness and utility of the GoE data within the envisaged federated data analyses infrastructure.

The work is divided into 6 tasks:

1. Population structure analysis.
2. Single variant lookups
3. Imputation server infrastructure and testing
4. Polygenic risk score distributions
5. Investigate the added value of lrGS compared to srGS
6. Plan for future GoE applications