One genome is not enough Gil McVean The Oxford Big Data Institute.
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Transcript of One genome is not enough Gil McVean The Oxford Big Data Institute.
![Page 2: One genome is not enough Gil McVean The Oxford Big Data Institute.](https://reader035.fdocuments.us/reader035/viewer/2022081515/56649f205503460f94c391a2/html5/thumbnails/2.jpg)
The Gene X hypothesis
![Page 3: One genome is not enough Gil McVean The Oxford Big Data Institute.](https://reader035.fdocuments.us/reader035/viewer/2022081515/56649f205503460f94c391a2/html5/thumbnails/3.jpg)
N = 1
![Page 4: One genome is not enough Gil McVean The Oxford Big Data Institute.](https://reader035.fdocuments.us/reader035/viewer/2022081515/56649f205503460f94c391a2/html5/thumbnails/4.jpg)
Do 40% of males have mental retardation?
![Page 5: One genome is not enough Gil McVean The Oxford Big Data Institute.](https://reader035.fdocuments.us/reader035/viewer/2022081515/56649f205503460f94c391a2/html5/thumbnails/5.jpg)
What constitutes evidence?
• Class B – Functional relevance
• Class A – Statistical association– Transmission within pedigree– Association within population
![Page 6: One genome is not enough Gil McVean The Oxford Big Data Institute.](https://reader035.fdocuments.us/reader035/viewer/2022081515/56649f205503460f94c391a2/html5/thumbnails/6.jpg)
Precision comes from numbers: Multiple sclerosis at 50,000
![Page 7: One genome is not enough Gil McVean The Oxford Big Data Institute.](https://reader035.fdocuments.us/reader035/viewer/2022081515/56649f205503460f94c391a2/html5/thumbnails/7.jpg)
120 140 160 180
1
2
4
8
16
32
64
128
256
Age at risk:
80-89
70-7960-69
50-59
40-49
5000 people
120 140 160 180
1
2
4
8
16
32
64
128
256 Age at risk:
80-89
70-79
60-69
50-59
40-49
50 000 people
120 140 160 180
1
2
4
8
16
32
64
128
256Age at risk:
80-89
70-79
60-69
50-59
40-49
500 000 people
Haz
ard
Ratio
(95%
CI)
Usual SBP (mmHg) Usual SBP (mmHg)
Courtesy of Prospective Studies Collaboration, unpublished
Usual SBP (mmHg)
The value of large numbers: Ischaemic heart disease and systolic blood pressure
![Page 8: One genome is not enough Gil McVean The Oxford Big Data Institute.](https://reader035.fdocuments.us/reader035/viewer/2022081515/56649f205503460f94c391a2/html5/thumbnails/8.jpg)
Medical data is big and growing…
Genome sequence
High dimensional profiling
Imaging
Electronic medical records
Mobile health
![Page 9: One genome is not enough Gil McVean The Oxford Big Data Institute.](https://reader035.fdocuments.us/reader035/viewer/2022081515/56649f205503460f94c391a2/html5/thumbnails/9.jpg)
…at a population scale
500,000
500,000
1,000,000
100,000100,000
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Challenges of data sharing
• Volume– How do we cope with the computational and analytical scale?
• Heterogeneity– How do we ensure we are measuring the same thing?
• Privacy– Do we have to share individual level data to achieve power?
• Security– How can we ensure that data are used appropriately?
• Engagement– How do we get people excited about sharing their data?
![Page 11: One genome is not enough Gil McVean The Oxford Big Data Institute.](https://reader035.fdocuments.us/reader035/viewer/2022081515/56649f205503460f94c391a2/html5/thumbnails/11.jpg)
An international partnership is needed
![Page 12: One genome is not enough Gil McVean The Oxford Big Data Institute.](https://reader035.fdocuments.us/reader035/viewer/2022081515/56649f205503460f94c391a2/html5/thumbnails/12.jpg)
Challenges of data sharing
• Volume– How do we cope with the computational and analytical scale?
• Heterogeneity– How do we ensure we are measuring the same thing?
• Privacy– Do we have to share individual level data to achieve power?
• Security– How can we ensure that data are used appropriately?
• Engagement– How do we get people excited about sharing their data?
![Page 13: One genome is not enough Gil McVean The Oxford Big Data Institute.](https://reader035.fdocuments.us/reader035/viewer/2022081515/56649f205503460f94c391a2/html5/thumbnails/13.jpg)
N = 1 | N > 100,000