Project outputs

Project progress

15%

We wish to provide you with easy access to the valuable information and resources produced during the course of our project. Here you will find deliverables, reports and other recourses produced by the Genome of Europe project.

Deliverables

Work Package No 1

Deliverable Related No

Deliverable Name
Due Date
D1.1
SAB and MAB Advisory Boards installed
31.03.2025
D1.2
GoE Project Handbook
31.03.2025
D1.3
List of National Mirror Group members
30.09.2025
D1.4
Advisory report 1
30.09.2025
D1.5
Advisory report 2
31.03.2027
D1.6
Final advisory report
31.03.2028

Milestone

Due date

Name

Lead beneficiary

Means of verification
M1
30.11.2024
GoE kick-off meeting
Erasmus MC
Meeting report
M2
31.03.2028
Successful completion of GoE
Erasmus MC
GoE periodic and final reports

Deliverable Related No

Deliverable Name
Due Date
D2.1
GoE Sample Composition 1
30.09.2025
D2.2
GoE Sample Composition 2
30.09.2026
D2.3
GoE Sample Composition 3
30.09.2027
D2.4
GoE sample tracking system
30.09.2026
D2.5
Results ILC1
31.03.2026
D2.6
Results ILC2
31.03.2027
D2.7
Results ILC3
31.03.2028
D2.8
SOP for srGS and lrGS
30.09.2025
D2.9
NGS technology comparison
30.09.2027
D2.10
ONT-based T2T reference genomes
30.09.2027
Milestone

Due date

Name

Lead beneficiary

Means of verification

M3
30.09.2025
GoE sampling plan, preliminary 1
Erasmus MC
Initial GoE sampling plan based on collection proceedings. Report detailing the final sampling plan and representativeness of already collected GoE samples
M4
30.09.2025
GoE sample tracking prototype
CNAG
Develop prototype database for the tracking of GoE samples. Prototype.
M41
30.09.2026
GoE sampling plan, preliminary 2
Erasmus MC
Update GoE sampling plan based on collection proceedings. Report detailing the final sampling plan and representativeness of already collected GoE samples
M42
30.09.2027
Final GoE sampling plan
Erasmus MC
Update GoE sampling plan based on collection proceedings. Report detailing the final sampling plan and representativeness of already collected GoE samples
M5
31.03.2025
Distribution of test items ILC1
CNAG
Ethics approval for ILC1, test item collected, DNA extracted and distributed to participants. Report on sample delivery
M6
31.03.2026
Distribution of test items ILC2
CNAG
Ethics approval for ILC2, test item collected, DNA extracted and distributed to participants. Report on sample delivery
M7
31.03.2027
Distribution of test items ILC3
CNAG
Ethics approval for ILC3, test item collected, DNA extracted and distributed to participants. Report on sample delivery
M8
30.09.2027
Comparison of different NGS technologies
EKUT
We compare up to 10 different NGS technologies; 10 samples will be sequenced twice, using each technology. Report on technologies used and individuals sequenced
M9
30.09.2027
Comparison of srGS with lrGS

EKUT

Determine advantages and consistency of lrGS in assessing “dark regions”. Report on comparison for srGS and lrGS applied for the same individuals.
M10
30.09.2027
T2T reference genome data

EKUT

T2T reference genome datasets are deposited in EGA/GHGA

Deliverable Related No

Deliverable Name
Due Date
D3.1
ICF and research participant information sheet templates
31.03.2027
D3.2
DPIA template for the future secondary use of genomic and related data collections
30.09.2026
D3.3
Report on the data governance options for GoE
30.09.2027
D3.4
Overview of participative outreach materials and activities
31.03.2028
D3.5
Compilation and summary of Reports on Legal Issues addressed in Task 3.3
30.09.2027
D3.6
ELSI Support activity report
31.01.2028
Milestone

Due date

Name

Lead beneficiary

Means of verification
M11
31.12.2024
Establishment of the GoE national ELSI expert group
Erasmus MC
Group composed of the national ELSI experts (nominated by GoE participating countries) will be established, with the inaugural meeting held in Month 3.
M12
31.03.2025
Legal readiness doc
LP
Co-lead: 29. BRFAA Legal documentation to enable high readiness collaboration. Legal documentation submitted to project coordination team. Language EN

M13

30.09.2025
Report: legal protections against genomics-based discrimination

LP

Co-lead: 29. BRFAA Overview of the risks of genomics-based discrimination against individuals and communities participating in the GoE project; and review of legal protections against such discriminatory practices. Document submitted to the project coordination team. Language EN

M14

30.09.2026
Report: liability and data quality

LP

Co-lead: 29. BRFAA. Research Report examining potential (legal) liability issues related to the secondary use of GoE data. Document submitted to the project coordination team. Language EN

M15

30.09.2026
Report: IP and right to exploitation

LP

Co-lead: 29. BRFAA. Research Report addressing intellectual property aspects and (non) commercial uses of GoE data. Document submitted to the project coordination team. Language EN

Deliverable Related No

Deliverable Name
Due Date

D4.1

GoE dataset is born: demonstration of the first subset of data

30.09.2026

D4.2

GoE data accessibility interim report

31.03.2027

D4.3

Final report on GoE data

31.03.2028

Milestone

Due date

Name

Lead beneficiary

Means of verification

M16

31.03.2025
Identify infrastructure gaps

UU

Engagement between GoE and GDI has taken place. Report on identified initial gaps.

M40

31.03.2025
Set up data management expert network building in current efforts

UU

Data management expert availability boost, expert network formed with advanced GDI “Vanguard” to manage GoE data. Announcement in the GoE consortium.

M17

31.03.2027
30% of GoE data included in GDI

UU

GoE will work with GDI to first submit test/synthetic data and then real data. Requires GoE metadata model that is compliant and validated with the 1+MG framework. Proof is 30% of GoE data findable in GDI.

M18

31.03.2028
80% of GoE data included in GDI

UU

Scale-up. Submission of GoE is considered adequate if we reach 80%+ of data entry. Proof is GoE access on 1+MG data catalogue.

Deliverable Related No

Deliverable Name
Due Date

D5.1

Overview report 1

30.09.2025

D5.2

Overview report 2
30.09.2026

D5.3

Overview report 3
30.09.2027

D5.4

Overview report final
31.03.2028

D5.5

Genome of Europe dataset
31.03.2028

D5.6

Demonstration of the operability of GoE through Use Cases
31.03.2028
D5.7
Data storage recommendation beyond GoE
31.03.2028
Milestone

Due date

Name

Lead beneficiary

Means of verification

M19

31.03.2027
Collected 30,000 samples for GoE
Erasmus MC
Collected sequencing data from at least 30.000 participants, both legacy WGS and/or newly generated WGS data, representing at least 5 different countries. Reports of individual sequencing centres to COO, and communication of COO with seqtech providers on orders placed by individual sequencing centres

M20

31.03.2028
Collected 100,000 samples for GoE
Erasmus MC
Collected sequencing data from 100.000 participants, both legacy WGS and/or newly generated WGS data, representing at least 10 different countries. Reports of individual sequencing centres to COO, and communication of COO with seqtech providers on orders placed by individual sequencing centres

M21

31.03.2026
Connection of 5 countries via GDI

UU

Co-lead: 1. Erasmus MC. Connected (synthetic) data from at least 5 participating countries through the GDI framework. Proof of concept report.

M22

31.03.2027
Connected 10 countries via GDI

UU

Co-lead: 1. Erasmus MC. Connected (synthetic) data from at least 10 participating countries through the GDI framework. Proof of concept report.

Deliverable Related No

Deliverable Name
Due Date

D6.1

Population structure inferred from aggregate allele-frequency data in GoE
30.09.2026

D6.2

Ancestry differences in clinically actionable disease genes and pharmacogenes
31.03.2028

D6.3

Proof-of concept for ancestry-informed genetic imputation + evaluation and interface thereof
30.09.2027
D6.4
PRS population distribution and demonstration of portability
30.09.2027

D6.5

Comparison of lrGS to srGS
30.09.2026

D6.6

Long-term strategy report
31.03.2028
Milestone

Due date

Name

Lead beneficiary

Means of verification

M25

30.09.2026
Group definition
INSERM
Based on GoE population structure, decided on the most relevant groups in which to stratify applications. Report on the comparisons to other existing genomic reference populations.

M26

30.09.2027
Variant annotation and allele-frequency calculations
INSA
Pipelines for allele frequency estimation and variant annotation to be established and tested, and then applied to datasets from at least 10 participating countries. Pipeline and first results published.

M27

30.09.2027
Imputation Server design and interface
INSERM
Co-lead: 23. HMGU. Proof of concept imputation studies and lay out of pipeline for ancestry specific imputation service. Pipeline and first results published.

M28

30.09.2027
Validation of PRS distributions
Erasmus MC
PRS distribution calculation in GoE for one disease example. Report on PRS distribution

M29

30.09.2027
Incorporate variants detected through lrGS
EKUT
Sufficient lrGS datasets have become available to compare added value with traditional srGS applications. Report on comparison lrGS vs srGS.

M30

30.09.2027

Long-term GoE application strategy

INSERM

Result of discussion and alignment within GoE, 1+MG and outside experts on long-term application and strategy of GoE. Report of envisaged long-term applications and suggested strategy

M31

30.09.2027
Additional phenotype availability
Erasmus MC
Outline of requested phenotypes by future directions on the use cases, aligned with potential availability in cohorts and technical options in GDI. Report on the comparison of requested and available phenotypes in use cases

Deliverable Related No

Deliverable Name
Due Date

D7.1

Annual report of the activities 1
30.09.2025

D7.2

Annual report of the activities 2
30.09.2026

D7.3

Annual report of the activities 3
30.09.2027

D7.4

Final report of the activities
31.03.2028

D7.5

Memo of Round table discussion with Key Opinion Leaders & stakeholder representatives
31.03.2026

D7.6

White paper for representatives from ministries of health and science, health authorities and professionals
31.03.2025

D7.7

Materials for press conferences focused on scientific reporting
31.03.2025

D7.8

Communication toolkit for GoE, including how to engage with lay audiences
31.05.2025

D7.9

BioSTEM toolkit
30.09.2025

D7.10

Project website
30.09.2025
Milestone

Due date

Name

Lead beneficiary

Means of verification

M32

31.12.2024
Mapping the national stakeholders
UTARTU
Report: List of meetings with health and science ministries to present GoE as an agenda item. Compilation of journalists covering genomics, science, and healthcare from diverse European countries.

M33

31.03.2025
Network of health authorities and professionals
UTARTU
Report: Network established – list of participants and contact information compiled

M34

31.03.2025
Social media collaborators
UTARTU
Report: List of existing social media accounts for collaborating on targeting citizens, including lay audiences
M35
31.03.2025
First poll- general awareness
UTARTU
Report: Polling to map the base awareness of EU (lay) people about genomics and genomics-based health care

M36

31.01.2028
Second poll – general awareness
UTARTU
Report: Polling to determine the effect of the GoE communication and dissemination activities on the awareness of EU (lay) people about genomics and genomics-based health care

M37

31.01.2028
First poll – students UPAT Report: Polling to assess the base genomics knowledge of EU students before their participation to BioSTEM activities
UPAT
Report: Polling to assess the base genomics knowledge of EU students before their participation to BioSTEM activities

M38

31.01.2028
Second poll – students
UPAT
Report: Polling to determine the effect of participation in BioSTEM activities on the genomics knowledge of the students

Deliverable Related No

Deliverable Name
Due Date
D8.1
POPD – OEI – H – NEC – HCT – Requirement No. 1
31.12.2024

D8.2

H – POPD – HCT – NEC – OEI – Requirement No. 2
30.09.2025

D8.3

H – HCT – NEC – POPD – OEI – Requirement No. 3
30.09.2026

D8.4

H – NEC – POPD – HCT – OEI – Requirement No. 4
31.03.2028
Milestone

Due date

Name

Lead beneficiary

Means of verification

M39

31.12.2024

Establishment of the Ethics Advisory Board

Erasmus MC

An EAB with at least three members, covering the expertise of ethics of research with biological samples, biobanking, data protection and ELSI of genomics research is appointed. Announcement in GoE consortium.