1.
Human Genomic Data Discoverability
Fiona Nielsen – Data Dialogue, Cambridge – July 28th 2016

2.
The surge of genomics data
• High throughput technologies – biology is moving from the lab to the
computer
2006 2007 2008 2009 2010 2011 2012 2013 2014 2015
Genomes Sequenced
80+PB
Sequenced
every year

3.
Population sequencing projects
• For example 100,000 Genomes project in the UK

4.
Where is the data?
• A researcher in human genomics knows on average 4-5 data sources
The need to redefine data sharing: http://www.sciencedirect.com/science/article/pii/S2212066114000386

5.
Hundreds of data sources
• Content overview of 163 data sources
Assay Types
Dedicated to…

6.
Hundreds of data sources
• Sizes vary from tens to 100s of thousands of samples
1
10
100
1000
10000
100000
1000000
Sample#(Log10)
Top 5:
GEO (1.8M)
PMI Cohort Program (1M)
Auria Biopankki (1M)
EGA (~0.6M)
SRA (~0.5M)

7.
Which populations are represented?
Aboriginals
African Americans
Africans
Australians
Chinese
Malays
Indians
Danish
Dutch Estonian
Russian
European Ancestry
Finnish
Icelandic
Japanese
Korean
Latin Americans
Saudi
Swedish

8.
Where does the data come from?
947560
0
8
8
66
0
2
6
6
8
50
62
3
2
5
0
0
2
3
International
Interesting site to look at:
http://omicsmaps.com/stats

9.
Why is some data not shared?
• Challenges for international research community: How to work across
borders and silos?

10.
Why is some data not shared?
• Additional challenges for biomedical: Data privacy, data governance,
patient consent, medical legislation

11.
Also consider: Community-led resources
• patient groups, academia, the general public

12.
What needs to change?
• Increased data visibility and accessibility positively benefit both
researchers and patients
?

13.
Pain points
FRAGMENTED
Poor visibility of available
genomic data
ADMIN BURDEN
Huge overhead to manage
data access
BAD CULTURE
Lack of data sharing habits in
research culture

14.
Best practices
MAKE DATA
DISCOVERABLE
SIMPLIFY
WORKFLOWS
CONTRIBUTE TO
COMMUNITY
DNAdigest and Repositive – Connecting the world of genomic data
http://journals.plos.org/plosbiology/article?id=10.1371%2Fjournal.pbio.1002418

15.
Panel discussion
• What are best practices for sharing difficult data?
FAIR data: Findable, Accessible, Interoperable, Reuseable

16.
Translating and Commercialising Genomic Research
7-9 December 2016| Wellcome Genome Campus, Hinxton, Cambridge UK
Applications open soon!
Scientific programme committee
Emmanuelle Astoul Wellcome Trust Sanger Institute, UK
Fiona Nielsen Repositive/DNAdigest, UK
Abel Ureta-Vidal Eagle Genomics, UK
Ross Rounsevell Wellcome Trust Sanger Institute, UK
Full details at:
www.wellcomegenomecampus.org/coursesandconferences
Topics will include:
• Commercial opportunities arising from data aggregation
• Exploiting bioinformatics tools
• Externalising bioinformatics pipelines
• Translating biomarkers, genetic signatures or gene panels

17.
CEO Fiona Nielsen, fiona@repositive.io
Try our free platform for discovering human genomic data http://repositive.io
Follow us on twitter @repositiveio