This webinar introduces the CINECA (Common Infrastructure for National Cohorts in Europe, Canada, and Africa) project, which aims to develop a federated cloud enabled infrastructure to make population scale genomic and biomolecular data accessible across international borders, to accelerate research, and improve the health of individuals across continents. CINECA will leverage international investment in human cohort studies from Europe, Canada, and Africa to deliver a paradigm shift of federated research and clinical applications. The CINECA consortium will create one of the largest cross-continental implementations of human genetic and phenotypic data federation and interoperability with a focus on common (complex) disease, one of the world’s most significant health burdens. CINECA has assembled a virtual cohort of 1.4M individuals from population, longitudinal and disease studies. Federated analyses will deliver new scientific knowledge, harmonisation strategies and the necessary ELSI framework supporting data exchange across legal jurisdictions enabling federated analyses in the cloud. CINECA will provide a template to achieve virtual longitudinal and disease specific cohorts of millions of samples, to advance benefits to patients. It will leverage partner membership of standards and infrastructures like the Global Alliance for Global Health, BBMRI, ELIXIR, and EOSC driving the state of the art in standards development, technical implementation and FAIR data. CINECA (Common Infrastructure for National Cohorts in Europe, Canada, and Africa) project, aims to develop a federated cloud enabled infrastructure to make population scale genomic and biomolecular data accessible across international borders, to accelerate research, and improve the health of individuals across continents. CINECA will leverage international investment in human cohort studies from Europe, Canada, and Africa to deliver a paradigm shift of federated research and clinical applications. This webinar took place on 6 June 2019. Recording of the webinar is available through the CINECA website. https://www.cineca-project.eu/news-events-all/cineca-intro For upcoming CINECA webinars see: https://www.cineca-project.eu/webinars

1. This project has received funding from the European Union’s Horizon 2020 research and
Innovation programme under grant agreement No. 825775
The CINECA project - Addressing bo7lenecks in
cohort data analysis
Presenter: Thomas Keane, CINECA coordinator, EMBL-EBI
Host: Vera Matser, EMBL-EBI

2. This webinar is being recorded

3. Audience Q&A Session
Please write your
questions in the
questions
window of the
GoToWebinar
application

4. Today’s presenter
Thomas Keane is the CINECA coordinator and team leader for
the European Genome Phenome Archive (EGA) and the
European Variation Archive (EVA) at EMBL-EBI. He is responsible
for strategic planning for EGA and EVA, is a member of the
Global Alliance for Genomics and Health (GA4GH) steering
committee, and co-leads the Large-scale Genomics workstream.
Before joining EMBL-EBI as Team Leader in 2016, Thomas led the
Sequence Variation Infrastructure group in the Computational
Genomics programme at the Wellcome Trust Sanger Institute.
His research interests are in using genomic technologies to understand biological
processes, with a par]cular focus on rodent models for human disease. He is the scien]fic
lead for the Mouse Genomes Project, a collabora]on with the Wellcome Sanger Ins]tute.
He also holds an honorary professorship at the University of No_ngham.

5. Large Scale Human Cohorts
Jessica Vamathevan, EMBL-EBI

6. Genomics and Healthcare
Percentage of whole genomes and exomes that are funded solely by
healthcare systems
2012
~1%
2017
~20%
2022
>80%

7. What is CINECA?
Emergence of many large cohorts of human gene]c data
• Biobanks, na]onal ini]a]ves, research studies
• Healthcare will produce millions of human genomes
Human gene]c and phenotypic data becoming decentralised
• Restric]ons on export (e.g. na]onal healthcare)
• Data volumes, security requirements
CINECA will enable "popula'on scale genomic and biomolecular data accessible
across interna'onal borders accelera'ng research and improving the health of
individuals resident across con'nents."

8. CINECA: 13 cohorts, 3 continents, ~1.4M participants

9. What are the challenges?
Challenge 1: Federated data discovery
Challenge 2: Interoperable authentication and authorisation
Challenge 3: Harmonised cohort level metadata
Challenge 4: Federated analysis interoperability for research and healthcare applications
Challenge 5: Trans-national harmonised ELSI framework

10. CINECA Structure
Data sources
EGA
Biobanks
CHILD
H3ABioNet
..

11. CINECA Structure
Data sources
EGA
Biobanks
CHILD
H3ABioNet
..

12. CINECA Structure
Data sources
EGA
Biobanks
CHILD
H3ABioNet
..
WP2
AAI
- Europe,
Canada, Africa
interoperability

13. CINECA Structure
Data sources
EGA
Biobanks
CHILD
H3ABioNet
..
WP3
Cohort Level
Meta Data
Representation
WP2
AAI
- Europe,
Canada, Africa
interoperability

14. CINECA Structure
Data sources
EGA
Biobanks
CHILD
H3ABioNet
..
WP1
Federated data
discovery
- Phenotype
- Genotype
- Data use
WP3
Cohort Level
Meta Data
Representation
WP2
AAI
- Europe,
Canada, Africa
interoperability

15. CINECA Structure
Data sources
EGA
Biobanks
CHILD
H3ABioNet
..
WP1
Federated data
discovery
- Phenotype
- Genotype
- Data use
WP4
Federated
research
- Federated
GWAS
- Federated
Genomic
Analyses
WP3
Cohort Level
Meta Data
Representation
WP2
AAI
- Europe,
Canada, Africa
interoperability

16. CINECA Structure
Data sources
EGA
Biobanks
CHILD
H3ABioNet
..
WP1
Federated data
discovery
- Phenotype
- Genotype
- Data use
WP4
Federated
research
- Federated
GWAS
- Federated
Genomic
Analyses
WP5
Clinical
applications
- Diagnostic
services
- FAIR data
analysis
WP3
Cohort Level
Meta Data
Representation
WP2
AAI
- Europe,
Canada, Africa
interoperability
Research+clinical
interface

17. CINECA Structure
Data sources
EGA
Biobanks
CHILD
H3ABioNet
..
WP1
Federated data
discovery
- Phenotype
- Genotype
- Data use
WP4
Federated
research
- Federated
GWAS
- Federated
Genomic
Analyses
WP5
Clinical
applications
- Diagnostic
services
- FAIR data
analysis
WP3
Cohort Level
Meta Data
RepresentaZon
WP2
AAI
- Europe,
Canada, Africa
interoperability
WP7+9: Ethical and legal governance WP6: Outreach, training and dissemination
Research+clinical
interface
WP8: Project Management and coordination

18. CINECA Partners

19. International Standards

20. Related Cohort Ini]a]ves
Interna]onal Hundred K Cohorts Consor]um (IHCC)
• "Create a global network for transla1onal research that will u1lize large cohorts to enhance the
understanding of the biological and gene1c basis of disease and improve clinical care and popula1on
health"
Common Disease Consor]um
• Consor]um of major gene]c ini]a]ves with a view towards millions scale GWAS
Emerging na]onal or regional healthcare genomics
• Genomics England, France Genomique, Finland,
Other large research biobanks
• BBMRI (Europe), UK Biobank, Kadoorie, Singapore 10K

21. Survey announcement
Please fill in the CINECA Needs Analysis and stakeholder survey
https://www.surveymonkey.co.uk/r/CINECAWP6
The results of the survey will be used to develop the CINECA stakeholder
engagement strategy and shape the training programme.
The training programme will include:
• webinar programme
• face-to-face training courses
• online training courses
• staff visits
We need
your help!

22. Funding
This project has received funding from the
Canadian Institute of Health Research
under grant agreement #404896
This project has received funding from the
European Union's Horizon 2020 Research
and Innovation Programme under grant
agreement #825775

23. Ques]ons?
The CINECA project - Addressing bojlenecks in cohort data analysis
Presenter: Thomas Keane, EMBL-EBI
Please write your questions in the
questions window of the
GoToWebinar application

24. Stay informed about CINECA
Connect with us to stay informed about news and upcoming events
@CinecaProject
www.linkedin.com/company/cineca-project
www.cineca-project.eu
The CINECA webinar series will continue after the summer