SlideShare a Scribd company logo
Christoph Steinbeck
and the
PhenoMeNal consortium
European Bioinformatics Institute, Hinxton
Friedrich-Schiller-University, Jena
Large scale computing with medical
metabolic phenotyping data
Understanding Phenotypes
Reaction times following
external change
• Genetics (decades, centuries…)
• Epigenetics (days, month, years,…)
• Gene Expression (hours)
• Metabolism (seconds)
The Metabolome
is the most accessible and
dynamically changing
Molecular Phenotype
Untargeted Metabolomics
of Cerebrospinal Fluid
AD – red; MCI- blue
Alzheimer’s Disease (AD), Mild Cognitive Impairment (MCI), Cognitive Normal (CN)
AD – red; CN- blue
Untargeted Metabolomics
of Cerebrospinal Fluid
AD – red; MCI- blue
Alzheimer’s Disease (AD), Mild Cognitive Impairment (MCI), Cognitive Normal (CN)
AD – red; CN- blue
Basis for a
diagnostic tool
Metabolomics On The Rise
Source: Google Scholar
Phenome Centres popping
up all over the world
• London
• Birmingham
• Shanghai
• NIH RCMRCs
• …
> 100,000 patient samples / year
> Several PetaBytes/year
=> ExaBytes of human data at
moderate scale-up
Metabolomics On The Rise
How do you make sense
of all that data?
Make data FAIR
-
Share them
-
Free and Open
•500 Million people in European Union
•Full Genomes (soon for less than $1000 p. P.)
•Urine/Blood Metabolome < 20 Euros per Patient
Large Scale Computing
with Medical
Metabolomics Data
• EBI lead
• H2020
• 3Years
• 13 Partners
• 8 Mio €
• 830 PM
• Kick-off 9/15
• H2020 e-infra
An e-infrastructure for
Large Scale Computing
with Medical
Metabolomics Data
Why
Research
Infrastructures?
PhenoMeNal Objectives
1. Integrate existing open source tools, resources
into a secure and sustainable e-Infrastructure
PhenoMeNal Objectives
2. Operate and consolidate the PhenoMeNal e-
infrastructure based on existing internal and external
HPC (High-performance computing) resources
PhenoMeNal Objectives
3. To improve and scale-up tools used within the
infrastructure to cope with very large datasets
4.To establish technology for a water-tight audit trail
PhenoMeNal Objectives
5. To establish privacy-protection methods
6.To foster the worldwide adoption of PhenoMeNal
7. To develop a model to ensure sustainability of the
PhenoMeNal network
Generic Cloudification
Large Scale Computing
with Medical
Metabolomics Data
Large Scale Computing
with Medical
Metabolomics Data
Networking Activities -EOSC
As	part	of	EOSC	and	
GO	FAIR,		
PhenoMeNal	helps	
building	a		hub	for	
verifying		
FAIR	metabolomics		
data
Funding and Collaborators
UK Research Councils (BBSRC, MRC)
European Commission
Slides on
http://www.slideshare.net/csteinbeck
Metabolights-help@ebi.ac.uk
Thank you!
PhenoMeNal: Large scale computing with medical metabolic phenotyping data

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PhenoMeNal: Large scale computing with medical metabolic phenotyping data