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Integration and analysis of heterogeneous big data for precision
medicine and suggested treatments for different types of patients.
SC1-PM-18-2016: Big Data supporting Public Health policies
iASiS: Big Data to
Support Precision
Medicine and Public
Health Policy
Sören Auer, Guillermo Palma, Maria-Esther Vidal
Farah Karim, Kemele Endris, Samaneh Jozashoori,
Scientific Data Management Group
13.12.2017
Big Data Europe: 3rd Workshop on Big Data in Health
1
http://project-iasis.eu
@Project_IASIS
Agenda
1. iASiS: Big Data to Support Precision Medicine and Public
Health Policy
2. The iASiS Architecture
3. iASiS Big Data Analytics and Pattern Discovery
2
iASiS: Vision and Objectives
3
iASiS Vision:
Turn clinical, pharmacogenomics, and other Big Data into actionable
knowledge for personalized medicine and health policy-making
iASiS Objectives:
•Integrate automated unstructured and structured data analysis,
image analysis, and sequence analysis into a Big Data framework
•Use the iASiS framework to support personalized diagnosis and
treatment
Pilot 1: Lung Cancer
4
Motivation:
• Lung cancer among the most
• common and deadly diseases
• costly cancers
• Lung cancer is a heterogeneous
disease. Characteristics differ among
• patients
• tumor regions
iASiS will enable:
• Discovery of correlations among
tumor spread, prognosis, response to
treatment
• Unraveling molecular mechanisms
that predict response to different
tumor types (signatures)
Pilot 2: Alzheimer's Disease
Motivation:
• Approximately, 10% of people over
65 suffer from Alzheimer’s
• Heterogeneity of the symptoms
impedes accurate diagnosis and
treatments
iASiS will enable:
• Discovery of patterns associated with
prognosis, outcomes, and response
to treatments
• Association of medical and lifestyle
advice to Alzheimer’s risk and stages
of severity
The iASiS Pipeline
6
Big Data in the Lung Cancer Pilot
• Pharmacological knowledge extracted
from publicly available datasets
• Biomedical ontologies and taxonomies
• terminology standardization
• semantically describing the EHRs
• EHRs in Spanish
• PET/CT Images
• Genomic Data/Liquid Biopsy
Samples
• EHRs in English
• MRI Brain Images
• Genomic Data
• Pharmacological knowledge extracted
from publicly available datasets
• Biomedical ontologies and taxonomies
• terminology standardization
• semantically describing the EHRs
Big Data in the Alzheimer's Disease Pilot
The iASiS Pipeline
9
Clinical Big Data Analytics
Clinical
Notes NLP
Data
Preprocessing
Medical
Images
Deep Learning Predictive
Models
Medical
Vocabularies
Knowledge
Data Mining
Knowledge
Graph
Genomic Big Data Analytics
Identification of
RNAs regulated
by RBP
Comparison
with available
information
Integration with
transcriptomic
data
Hospital-derived
data
Knowledge
Graph
Identification of
key genes and
interactions
Open Big Data Analytics
• Heterogeneous open data
• Semantic indexing of the data via ontologies and thesauri
• Knowledge extraction from the data
• NLP and network analysis technologies
The iASiS Pipeline
13
The iASiS Schema
14
http://vocol.iais.fraunhofer.de/iasis/ Powered by VolCol
The iASiS Pipeline
15
The iASiS Architecture
16
Knowledge Graph
Central
Node
Node@Partner1
Node@Partner2
The iASiS Architecture
17
Knowledge Graph
The iASiS Architecture
18
Knowledge Graph
Central
Node
Node@Partner1
The iASiS Architecture
19
Knowledge Graph
Central
Node
Node@Partner1
Node@Partner2
Big Data Analytics and Pattern Discovery
20
Pragmatics
ContextSemantics
Drug
Similarity
Target
Similarity
Detecting
Patterns
Predicting
Interactions
Computing
Similarity
Pattern Detection Prediction
Principle
Network of
Drugs, Targets,
and interactions
Patterns of
similar Drugs,
similar Targets,
and their
interactions
Discovered
Drug-Target
Interactions
ChEBI Ontology
Patterns between Drug-Protein Interactions
21
Predicted Interactions between Drugs and Proteins
Patterns between Drug and Side Effects
22
Predicted Interactions between Drugs and Side Effects
Conclusions and Future Work
23
The iASiS Pipeline
The iASiS Architecture Big Data Analytics and Pattern Discovery
Conclusions and Future Work
24
The iASiS Pipeline
The iASiS Architecture Big Data Analytics and Pattern Discovery
Next Steps:
● Ingest Big Data
● Extract Knowledge from Big Data sources
● Create the iASiS Knowledge Graph
● Enforce Data Access and Privacy Policies
● Big Data Processing and Analytics
The iASiS Partners
25
The iASiS Team
26
Scientific Data Management Group at TIB
27
Guillermo
Palma
Guillermo Betancourt Yerson Roa
Kemele
Endris
Farah
Karim
Bachelor StudentsPhD StudentsPostDoc
Maria-Esther Vidal
Samaneh
Jozashoori
Many thanks for your attention!
Questions?
28

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BDE SC1 Workshop 3 - iASiS (Guillermo Palma)

  • 1. Integration and analysis of heterogeneous big data for precision medicine and suggested treatments for different types of patients. SC1-PM-18-2016: Big Data supporting Public Health policies iASiS: Big Data to Support Precision Medicine and Public Health Policy Sören Auer, Guillermo Palma, Maria-Esther Vidal Farah Karim, Kemele Endris, Samaneh Jozashoori, Scientific Data Management Group 13.12.2017 Big Data Europe: 3rd Workshop on Big Data in Health 1 http://project-iasis.eu @Project_IASIS
  • 2. Agenda 1. iASiS: Big Data to Support Precision Medicine and Public Health Policy 2. The iASiS Architecture 3. iASiS Big Data Analytics and Pattern Discovery 2
  • 3. iASiS: Vision and Objectives 3 iASiS Vision: Turn clinical, pharmacogenomics, and other Big Data into actionable knowledge for personalized medicine and health policy-making iASiS Objectives: •Integrate automated unstructured and structured data analysis, image analysis, and sequence analysis into a Big Data framework •Use the iASiS framework to support personalized diagnosis and treatment
  • 4. Pilot 1: Lung Cancer 4 Motivation: • Lung cancer among the most • common and deadly diseases • costly cancers • Lung cancer is a heterogeneous disease. Characteristics differ among • patients • tumor regions iASiS will enable: • Discovery of correlations among tumor spread, prognosis, response to treatment • Unraveling molecular mechanisms that predict response to different tumor types (signatures)
  • 5. Pilot 2: Alzheimer's Disease Motivation: • Approximately, 10% of people over 65 suffer from Alzheimer’s • Heterogeneity of the symptoms impedes accurate diagnosis and treatments iASiS will enable: • Discovery of patterns associated with prognosis, outcomes, and response to treatments • Association of medical and lifestyle advice to Alzheimer’s risk and stages of severity
  • 7. Big Data in the Lung Cancer Pilot • Pharmacological knowledge extracted from publicly available datasets • Biomedical ontologies and taxonomies • terminology standardization • semantically describing the EHRs • EHRs in Spanish • PET/CT Images • Genomic Data/Liquid Biopsy Samples
  • 8. • EHRs in English • MRI Brain Images • Genomic Data • Pharmacological knowledge extracted from publicly available datasets • Biomedical ontologies and taxonomies • terminology standardization • semantically describing the EHRs Big Data in the Alzheimer's Disease Pilot
  • 10. Clinical Big Data Analytics Clinical Notes NLP Data Preprocessing Medical Images Deep Learning Predictive Models Medical Vocabularies Knowledge Data Mining Knowledge Graph
  • 11. Genomic Big Data Analytics Identification of RNAs regulated by RBP Comparison with available information Integration with transcriptomic data Hospital-derived data Knowledge Graph Identification of key genes and interactions
  • 12. Open Big Data Analytics • Heterogeneous open data • Semantic indexing of the data via ontologies and thesauri • Knowledge extraction from the data • NLP and network analysis technologies
  • 16. The iASiS Architecture 16 Knowledge Graph Central Node Node@Partner1 Node@Partner2
  • 18. The iASiS Architecture 18 Knowledge Graph Central Node Node@Partner1
  • 19. The iASiS Architecture 19 Knowledge Graph Central Node Node@Partner1 Node@Partner2
  • 20. Big Data Analytics and Pattern Discovery 20 Pragmatics ContextSemantics Drug Similarity Target Similarity Detecting Patterns Predicting Interactions Computing Similarity Pattern Detection Prediction Principle Network of Drugs, Targets, and interactions Patterns of similar Drugs, similar Targets, and their interactions Discovered Drug-Target Interactions ChEBI Ontology
  • 21. Patterns between Drug-Protein Interactions 21 Predicted Interactions between Drugs and Proteins
  • 22. Patterns between Drug and Side Effects 22 Predicted Interactions between Drugs and Side Effects
  • 23. Conclusions and Future Work 23 The iASiS Pipeline The iASiS Architecture Big Data Analytics and Pattern Discovery
  • 24. Conclusions and Future Work 24 The iASiS Pipeline The iASiS Architecture Big Data Analytics and Pattern Discovery Next Steps: ● Ingest Big Data ● Extract Knowledge from Big Data sources ● Create the iASiS Knowledge Graph ● Enforce Data Access and Privacy Policies ● Big Data Processing and Analytics
  • 27. Scientific Data Management Group at TIB 27 Guillermo Palma Guillermo Betancourt Yerson Roa Kemele Endris Farah Karim Bachelor StudentsPhD StudentsPostDoc Maria-Esther Vidal Samaneh Jozashoori
  • 28. Many thanks for your attention! Questions? 28