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Meeting the Computational 
Challenges Associated with Human 
Health 
Philip E. Bourne, PhD 
Associate Director for Data Science 
National Institutes Health 
SC14 New Orleans 
November 20, 2014
We have come a long way in just one 
researcher’s career
We Have Both Been Very Successful 
World Climate Report 2011 
http://www.cnet.com/news/china-unseats-u-s-in-supercomputer-ranking/
We Have Both Been Very Successful 
World Climate Report 2011 
http://www.cnet.com/news/china-unseats-u-s-in-supercomputer-ranking/
SDSC Abbreviated Timeline 
1985 1990 1995 2000 2005 2010 
Cray-XMP48 
220 Mflops 
Cray C90 
5 Gflops 
Cray T3E 
1 Tflops 
http://www.sdsc.edu/News%20Items/PR101510_25years.html
.. But There is Much to Do 
 Number of drugs is: 
– Too few 
– Too Long to get to market 
– Not personalized 
 Rare diseases are ignored 
 Clinical trials are too limited in the number of patients 
too expensive and not retroactive 
 Education & training does not match well to current 
market needs 
 Research is not cost effective 
– Not easily replicated 
– Too slow to disseminate 
 …..
.. And there is much ferment in 
research .. 
http://fora.tv/2012/04/20/Congress_Unplugged_ 
Phil_Bourne
.. and healthcare systems 
http://www.genomicsengland.co.uk/the-100000-genomes-project/
But we can see the promise and much 
of that promise is driven by the data 
revolution
The NIH Fire Hose Slide
An Example of That Promise: 
Comorbidity Network for 6.2M Danes 
Over 14.9 Years 
Jensen et al 2014 Nat Comm 5:4022
What is the NIH Doing to Fulfill 
That Promise?
ADDS Mission 
Statement 
To foster an open ecosystem that 
enables biomedical* research to be 
conducted as a digital enterprise that 
enhances health, lengthens life and 
reduces illness and disability 
* Includes biological, biomedical, behavioral, social, 
environmental, and clinical studies that relate to understanding 
health and disease.
Elements of The Ecosystem 
Community Policy 
Infrastructure 
• Sustainability 
• Collaboration 
• Training
Elements of The Ecosystem 
Community Policy 
Infrastructure 
• Sustainability 
Collaboration 
• Training 
Virtuous 
Research 
Cycle
Policies – Now & Forthcoming 
 Data Sharing 
– Genomic data sharing announced 
– Data sharing plans on all research awards 
– Data sharing plan enforcement 
• Machine readable plan 
• Repository requirements to include grant numbers 
http://www.nih.gov/news/health/aug2014/od-27.htm
Policies - Forthcoming 
 Data Citation 
– Goal: legitimize data as a form of scholarship 
– Process: 
• Machine readable standard for data citation (done) 
• Endorsement of data citation for inclusion in NIH bib 
sketch, grants, reports, etc. 
• Example formats for human readable data citations 
• Slowly work into NLM/NCBI workflow
Infrastructure - The 
BD2K 
Center 
Commons 
BD2K 
Center 
BD2K 
Center 
BD2K 
Center 
BD2K 
Center 
BD2K 
Center 
DDICC 
Software 
Standard 
s 
Labs 
Labs 
Labs 
Labs
What is the Commons? 
 A Conceptual Framework for sharing and 
being FAIR: 
– Finding 
– Accessing 
– Integrating, 
– Reusing 
 digital research objects with attribution 
 The Commons is agnostic of computing platform
The Commons 
Digital Objects 
(with UIDs) 
Search 
(indexed metadata) 
Computing 
Platform 
The Commons
The Commons 
Digital Objects 
(with UIDs) 
Search 
(indexed metadata) 
Computing 
Platform 
The Commons
The Commons: Compute Platforms 
The Commons 
Conceptual Framework 
Public Cloud 
Platforms 
Super Computing 
(HPC) Platforms 
Other 
Platforms ? 
 Google, AWS (Amazon) 
 Microsoft (Azure), IBM, 
other? 
 In house compute 
solutions 
 Private clouds, HPC 
– Pharma 
– The Broad 
– Bionimbus 
 Low access by NIH PIs 
 Super Computing 2014 
 ADDS coordinating 
meeting with SC centers 
 NERSC “Commons Pilot”
The Commons 
Digital Objects 
(with UIDs) 
Search 
(indexed metadata) 
Computing 
Platform 
The Commons
The Commons: 
Research Objects APIs and Search 
The Commons 
Conceptual Framework 
Public Cloud 
Platforms 
 Research Object IDs under discussion by the community 
– BD2K centers, NCI Cloud pilots (Google & AWS supported) 
– Large Public Data Sets, MODs 
 Search 
– BD2K Data and Software Discovery Indices 
– Google Search functions 
 Appropriate APIs being developed by the community eg 
GA4GH 
 Use cases
The Commons: 
Next Steps 
The Commons 
Conceptual Framework 
 Next Steps 
– Currently identifying pilot projects 
Public Cloud 
Platforms 
 Interested speak with Vivien Bonazzi
Commons – Simple Implementation 
Stack 
App 
Store 
AAPPIIss App 
Store 
Biomedical Data 
Biomedical Data 
Software 
Software 
BBioiommeeddicicaal l DDAATTAA 
BBigig DDaattaa SSooffttwwaarree 
SSccaalalabblele HHaarrddwwaarree
The Commons: 
Business Model 
[George Komatsoulis]
Community: Training 
Data Science Training Goals 
1) Build an OPEN digital framework for data 
science training: 
NIH Data Science Workforce Development Center 
1) Develop short-term training opportunities: 
Courses, educational resources, etc. 
1) Develop the discipline of biomedical data 
science and support cross-training – OPEN 
courseware 
All goals have a diversity component and manate
What Is Needed? – Some Examples 
from Across the ICs 
 Homogenization of disparate large unstructured 
datasets 
 Deriving structure from unstructured data 
 Feature mapping and comparison from image data 
 Visualization and analysis of multi-dimensional 
phenotypic datasets 
 Causal modeling of large scale dynamic networks 
and subsequent discovery 
 Utilize data that are sparsely and irregularly sampled 
and noisy 
BD2K can offer reference datasets and points of 
domain expertise to explore these questions
Potential Outcomes 
 Mobility: improve the outcomes of surgeries in 
children with cerebral palsy and gait pathology 
 Wellness: markers derived from constantly monitored 
eHealth/mobile health devices – apply to smoking 
cessation, weight loss 
 Cancer: further personalization of treatment 
 Mental Health: better identify factors that resist and 
promote brain disease e.g., schizophrenia, bipolar 
disorder, major depression, attention deficit 
hyperactivity disorder (ADHD), obsessive compulsive 
disorder (OCD), autism 
 Addiction: utilizing social media to track and treat 
drug use and addiction
In Summary 
CIA World Fact Book
Associate Director for Data Science 
Scientific Data Council External Advisory Board 
Programmatic Theme 
Sustainability Education Innovation Process 
Deliverable 
Commons Training 
BD2K Efficiency 
Example Features • IC’s 
• Cloud – Data & 
Compute 
• Search 
• Security 
• Reproducibility 
Standards 
• App Store 
• Coordinate 
• Hands-on 
• Syllabus 
• MOOCs 
• Community 
• Centers 
• Training Grants 
• Catalogs 
• Standards 
• Analysis 
• Data 
Resource 
Support 
• Metrics 
• Best 
Practices 
• Evaluation 
• Portfolio 
Analysis 
Collaboration 
Partnerships 
• Researchers 
• Federal 
Agencies 
• International 
Partners 
• Computer 
Scientists 
The Biomedical Research Digital Enterprise
NNIIHH…… 
philip.bourne@nih.gov 
TTuurrnniinngg DDiissccoovveerryy IInnttoo HHeeaalltthh

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Meeting the Computational Challenges Associated with Human Health

  • 1. Meeting the Computational Challenges Associated with Human Health Philip E. Bourne, PhD Associate Director for Data Science National Institutes Health SC14 New Orleans November 20, 2014
  • 2. We have come a long way in just one researcher’s career
  • 3.
  • 4. We Have Both Been Very Successful World Climate Report 2011 http://www.cnet.com/news/china-unseats-u-s-in-supercomputer-ranking/
  • 5. We Have Both Been Very Successful World Climate Report 2011 http://www.cnet.com/news/china-unseats-u-s-in-supercomputer-ranking/
  • 6. SDSC Abbreviated Timeline 1985 1990 1995 2000 2005 2010 Cray-XMP48 220 Mflops Cray C90 5 Gflops Cray T3E 1 Tflops http://www.sdsc.edu/News%20Items/PR101510_25years.html
  • 7. .. But There is Much to Do  Number of drugs is: – Too few – Too Long to get to market – Not personalized  Rare diseases are ignored  Clinical trials are too limited in the number of patients too expensive and not retroactive  Education & training does not match well to current market needs  Research is not cost effective – Not easily replicated – Too slow to disseminate  …..
  • 8. .. And there is much ferment in research .. http://fora.tv/2012/04/20/Congress_Unplugged_ Phil_Bourne
  • 9. .. and healthcare systems http://www.genomicsengland.co.uk/the-100000-genomes-project/
  • 10. But we can see the promise and much of that promise is driven by the data revolution
  • 11. The NIH Fire Hose Slide
  • 12. An Example of That Promise: Comorbidity Network for 6.2M Danes Over 14.9 Years Jensen et al 2014 Nat Comm 5:4022
  • 13. What is the NIH Doing to Fulfill That Promise?
  • 14. ADDS Mission Statement To foster an open ecosystem that enables biomedical* research to be conducted as a digital enterprise that enhances health, lengthens life and reduces illness and disability * Includes biological, biomedical, behavioral, social, environmental, and clinical studies that relate to understanding health and disease.
  • 15. Elements of The Ecosystem Community Policy Infrastructure • Sustainability • Collaboration • Training
  • 16. Elements of The Ecosystem Community Policy Infrastructure • Sustainability Collaboration • Training Virtuous Research Cycle
  • 17. Policies – Now & Forthcoming  Data Sharing – Genomic data sharing announced – Data sharing plans on all research awards – Data sharing plan enforcement • Machine readable plan • Repository requirements to include grant numbers http://www.nih.gov/news/health/aug2014/od-27.htm
  • 18. Policies - Forthcoming  Data Citation – Goal: legitimize data as a form of scholarship – Process: • Machine readable standard for data citation (done) • Endorsement of data citation for inclusion in NIH bib sketch, grants, reports, etc. • Example formats for human readable data citations • Slowly work into NLM/NCBI workflow
  • 19. Infrastructure - The BD2K Center Commons BD2K Center BD2K Center BD2K Center BD2K Center BD2K Center DDICC Software Standard s Labs Labs Labs Labs
  • 20. What is the Commons?  A Conceptual Framework for sharing and being FAIR: – Finding – Accessing – Integrating, – Reusing  digital research objects with attribution  The Commons is agnostic of computing platform
  • 21. The Commons Digital Objects (with UIDs) Search (indexed metadata) Computing Platform The Commons
  • 22. The Commons Digital Objects (with UIDs) Search (indexed metadata) Computing Platform The Commons
  • 23. The Commons: Compute Platforms The Commons Conceptual Framework Public Cloud Platforms Super Computing (HPC) Platforms Other Platforms ?  Google, AWS (Amazon)  Microsoft (Azure), IBM, other?  In house compute solutions  Private clouds, HPC – Pharma – The Broad – Bionimbus  Low access by NIH PIs  Super Computing 2014  ADDS coordinating meeting with SC centers  NERSC “Commons Pilot”
  • 24. The Commons Digital Objects (with UIDs) Search (indexed metadata) Computing Platform The Commons
  • 25. The Commons: Research Objects APIs and Search The Commons Conceptual Framework Public Cloud Platforms  Research Object IDs under discussion by the community – BD2K centers, NCI Cloud pilots (Google & AWS supported) – Large Public Data Sets, MODs  Search – BD2K Data and Software Discovery Indices – Google Search functions  Appropriate APIs being developed by the community eg GA4GH  Use cases
  • 26. The Commons: Next Steps The Commons Conceptual Framework  Next Steps – Currently identifying pilot projects Public Cloud Platforms  Interested speak with Vivien Bonazzi
  • 27. Commons – Simple Implementation Stack App Store AAPPIIss App Store Biomedical Data Biomedical Data Software Software BBioiommeeddicicaal l DDAATTAA BBigig DDaattaa SSooffttwwaarree SSccaalalabblele HHaarrddwwaarree
  • 28. The Commons: Business Model [George Komatsoulis]
  • 29. Community: Training Data Science Training Goals 1) Build an OPEN digital framework for data science training: NIH Data Science Workforce Development Center 1) Develop short-term training opportunities: Courses, educational resources, etc. 1) Develop the discipline of biomedical data science and support cross-training – OPEN courseware All goals have a diversity component and manate
  • 30. What Is Needed? – Some Examples from Across the ICs  Homogenization of disparate large unstructured datasets  Deriving structure from unstructured data  Feature mapping and comparison from image data  Visualization and analysis of multi-dimensional phenotypic datasets  Causal modeling of large scale dynamic networks and subsequent discovery  Utilize data that are sparsely and irregularly sampled and noisy BD2K can offer reference datasets and points of domain expertise to explore these questions
  • 31. Potential Outcomes  Mobility: improve the outcomes of surgeries in children with cerebral palsy and gait pathology  Wellness: markers derived from constantly monitored eHealth/mobile health devices – apply to smoking cessation, weight loss  Cancer: further personalization of treatment  Mental Health: better identify factors that resist and promote brain disease e.g., schizophrenia, bipolar disorder, major depression, attention deficit hyperactivity disorder (ADHD), obsessive compulsive disorder (OCD), autism  Addiction: utilizing social media to track and treat drug use and addiction
  • 32. In Summary CIA World Fact Book
  • 33. Associate Director for Data Science Scientific Data Council External Advisory Board Programmatic Theme Sustainability Education Innovation Process Deliverable Commons Training BD2K Efficiency Example Features • IC’s • Cloud – Data & Compute • Search • Security • Reproducibility Standards • App Store • Coordinate • Hands-on • Syllabus • MOOCs • Community • Centers • Training Grants • Catalogs • Standards • Analysis • Data Resource Support • Metrics • Best Practices • Evaluation • Portfolio Analysis Collaboration Partnerships • Researchers • Federal Agencies • International Partners • Computer Scientists The Biomedical Research Digital Enterprise
  • 34. NNIIHH…… philip.bourne@nih.gov TTuurrnniinngg DDiissccoovveerryy IInnttoo HHeeaalltthh

Hinweis der Redaktion

  1. 16 million hospital inpatient events (24.5% of total), 35 million outpatient clinic events (53.6% of total) and 14 million emergency department events (21.9% of total