QS 702 Phase II: Encouraging the Integration of Technology Into Higher Education.
Phase 1 Phase 2 Phase 3 Appro v al Cum ulativ eIndustrializing data integration GWAS COSMIC OMIM/Cli...
Transcript of Phase 1 Phase 2 Phase 3 Appro v al Cum ulativ eIndustrializing data integration GWAS COSMIC OMIM/Cli...
Phase 1 Phase 2 Phase 3 Approval Cumulative
Pe
rce
nt
su
cce
ss
020
40
60
80
10
0
15%
Drug development rarely succeeds
Hay et al. Nature Biotechnology. 2014.
Human genetics can help
Nelson et al. Nature Genetics. 2015.
Industrializing big data integrationHuman genetics & human cells
A new type of partnership
Industrializing data integration
GWAS COSMIC
OMIM/ClinVar
ExAC
United data model, pathways, statistical
integration, ENSEMBL regulatory build
Biopsies Crypt
isolation Organoid culture
QC Experiments Data
analysis
Set up stage Development stage Analysis
Freeze/Storage
Phenotyping qPCR/
imaging
Expansion
IL22 stimulation
Archiving
infection
Microbiota
Genotyping
Proteomics
Transcriptomics
Methylation
Workflow for Establishing Organoid Bank
In collaboration with Matt Zilbauer
Human genetics & human cells
IBD, combined phenotype (Nov 2012)
Chromosome 18 (kb)
44500 44600 44700 44800 44900
0
2
4
6
8
Observ
ed (
−lo
gP
)
0
20
40R
ecom
bin
ation r
ate
(cM
/Mb
)p = 5.0e−08
rs7240004 (P = 6.1e−06)
1 0.8 0.6 0.4 0.2
1 . rs7240004 : Inflammatory_bowel_disease(1E−9)
11
2 . rs4939827 : Colorectal_cancer(8E−28)
22
3 . rs357894 : Dental_car ies(4E−6)
33
4 . rs1787200 : Height(1E−10)
44
rs7240004, incl. replication (P = 9.81e−09)
KIAA0427
SMAD7
DYM
DNA/RNA products
ChIP training
A new type of partnership