BioHackathon 2016 Symposium

1. Development of Tohoku Medical Megabank
Integrated Database ”dbTMM”
Group of Integrated Database System,
Tohoku Medical Megabank Organization,
Tohoku University
Associate Professor Group Leader
Soichi Ogishima
integrating health and genomic data of 1,070 participants
toward genomic medicine
1 ogishima@megabank.tohoku.ac.jp

2. 2

3. Development of biobank is key for realization of genomic medicine,
in other words, precision medicine.
Biobank Research Institutes
Biobank stores demographics data, laboratory test, and clinical data.
On the other hand, research institutes own genome and omics data.
Material
Transfer
Genome & Omics Analysis
Demographic
Data
Laboratory
Test Data
Clinical
Data
Genome & Omics Data
Study
Participants
3
Biobank toward genomic medicine
Sequencing Facility

4.
Integrated Biobank and Database
Tohoku Medical Megabank (TMM) is an “integrated biobank” having both
biobank and sequence facility, which develops integrated database.
Biobank
Genome & Omics Analysis
Participant
Data
Laboratory
Test Data
Clinical
Data
Genome & Omics Data
Study
Participants
4
Questionnaire
Data
Cohort
Tohoku Medical Megabank Integrated Database “dbTMM”
Researchers
Data Sharing
Integrated Biobank
Health and Clinical Data
Sequence Facility
Omics Analysis Facility

5. Development of Tohoku Medical
Megabank Integrated Database
“dbTMM” integrating health and
genomic data toward genomic
medicine
5
Search
Constitution (Genome sequence (variation)) :
Chr 8 pos 41519462 (rs515071) = TT
&
Health status (Lab test) : HbA1c > 6.2
&
Lifestyle (QA) : Alcohol drinking = Yes
&
Disease History (QA) : Type II Diabates = Yes
150,000 participants
Precise
Stratification
by health, clinical
and genomic data
Genomic & Omics data
TMM Integrated Database
“dbTMM”
Health & Clinical Data
demographic
data
3,000 participants

6. Questionnaire
Data
Consent Form
Resident Register
Hospitals (Regional Medical
Record Network)
Physiological
Test Data
Demographics
Data
Laboratory
Test Data
Specimen
Data
Clinical
Data
Physiological Test
MRI Test
De-idenfication
Cohort
Data monitoring / cleaning
Specimen
Health data
collection
(scheduled)
Biobank
Sequencing
QC Clinical
Data
Health
Survey
Data
Specimen
Data
Genome &
Omics
Data
Data Integration and Standarization
Genome
& Omics
Data Tohoku Medical Megabank
Integrated Database dbTMM
DNA
Biobank ID Investigation ID Clinical ID
Cohort ID
Blood urine test
6
Data collection and integration
Clinical data
collection

7. Fast Search of Health, Clinical and Genomic Large-scale Data
Statistical Characterization of Stratified Population
How can researchers understand
narrowed-down population
w/o browsing all the variable data?
Detection of
statistically significant
difference
Integrated Database “dbTMM” stores health, clinical and genomic large-scale data
over 2.1 million SNV sites.
Statistical characterization of stratified population gives us a hint for research.
Tohoku Medical Megabank
150,000 participants
Stratified Population
3000 participants
7
Men
Smokers
TMM Integrated Database “dbTMM”
Statistical
Characterization

8. Release 1.0.0 (Mar 31, 2016)
The first release of “dbTMM”
Whole Genome
Sequence
Data
SNV
2.1 million sites
Blood Urine
Test Data
Hematological test
(Blood cell counting)
Immunological test
(Allergy test)
Biochemical Test
Urine Test
Questionnaire Data
Demographics, Exercise,
Alcohol drink, Smoking,
Stress, Family structure,
Health status, Disease history,
Constitution, Work, Sleep,
Association, Earthquake
(Tsunami) experience,
Women Health
Sex, Age (not included) (scheduled)
8
1,070 participants of Miyagi Resident Cohort
Demographics

9. 9
User Interface
Detailed Search
Any variables,
combinations,
conditions with
AND/OR
Category Facet
Cohort type,
Disease
classification,
Omics data type
Statistical
Characteristic
for Stratified
Population
Detection of
statistically
significant difference
Graph for
Stratified
Population
Sex, Age, BP,
Smoking, Alcohol
Drinking, Disease
History
Data Table
Data table for
stratified
population

10. http://www.dist.megabank.tohoku.ac.jp/
10
1,070
Explanations and statistical graphs for
all the variables stored in Release 1.0.0
of our integrated database “dbTMM”
Integrated Database “dbTMM” catalogue
Alcohol drink
Yes
No
No (Constitutionally)
Rarely
(>once/month)

11. Precise stratification promotes researches for genomic medicine.
Genomic Data
150,000
participants
Omics Data
Lab Test Data
Clinical Data
Questionnaire Data
Questionnaire Data
Clinical Data
11
Precise “Stratification” and “Phenotyping”
of TMM toward Genomic Medicine