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How do you access genomic data? Bart’s Health Innovation Fiona Nielsen [email protected] o.uk Sept 30, 2014
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How do you access genomics data? Barts Health Innovation Sept 2014

Nov 18, 2014

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Health & Medicine

Fiona Nielsen

Nucleobase, the social enterprise spin-out of DNAdigest, is building a data discovery platform to ease the pain of finding and locating relevant genomic datasets for research. See also http://nucleobase.co.uk

The research described in this slide deck was published in Journal of Applied and Translational Genomics as an Open Access paper: http://www.sciencedirect.com/science/article/pii/S2212066114000386

DNAdigest works to promote and enable easier and more efficient sharing of genomics data for research. We educate and engage the community about the hurdles and dilemmas for data sharing as faced from the perspective of stakeholders in academia, industry and patient communities. As part of our work we are working with our community and supporters to prototype new mechanisms and concepts for data sharing and data access.

Please visit our website to learn more about our activities and events: http://DNAdigest.org

This deck was used also to present at the Cambridge Sequencing Informatics Meeting VI on September 29, 2014
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Page 1: How do you access genomics data? Barts Health Innovation Sept 2014

How do you access genomic data?Bart’s Health Innovation Fiona Nielsen

[email protected] 30, 2014

Page 2: How do you access genomics data? Barts Health Innovation Sept 2014

The frustrated researcher!

How did this happen?

Page 3: How do you access genomics data? Barts Health Innovation Sept 2014

The long road to resultsRaw reads

Read QC

Variant calling

Analysis-readyreads

Analysis-readyvariants

Variant Annotation Genotype

Refinement Raw Indels

Raw SVs

Raw SNPs

Mapping

External Data

Page 4: How do you access genomics data? Barts Health Innovation Sept 2014

What do you do?

Sequence Read Archive

Page 5: How do you access genomics data? Barts Health Innovation Sept 2014

What do you do?

Page 6: How do you access genomics data? Barts Health Innovation Sept 2014

What do you do?

Page 7: How do you access genomics data? Barts Health Innovation Sept 2014

Yikes

What do you do?

PubMed?

Page 8: How do you access genomics data? Barts Health Innovation Sept 2014

What do you do?

Page 9: How do you access genomics data? Barts Health Innovation Sept 2014

What do you do?

Ask your PI

Write application

Apply for access

Wait…Wait…Wait…Wait…

Page 10: How do you access genomics data? Barts Health Innovation Sept 2014

Access requests can take months

Page 11: How do you access genomics data? Barts Health Innovation Sept 2014

You are not the only one

T. A. van Schaik et alThe need to redefine genomic data sharing: a focus on data

accessibility, Applied & Translational Genomics, 2014

10.1016/j.atg.2014.09.013

Researchers spend months to find and access genomic data, and often choose to not access

data at all

Page 12: How do you access genomics data? Barts Health Innovation Sept 2014

2006 2007 2008 2009 2010 2011 2012 2013 2014 2015

Genomes Sequenced

~400k genomes produced

And how do you keep up?

Page 13: How do you access genomics data? Barts Health Innovation Sept 2014

What IF?

You could search all available data?

You could rank data by relevance?

You could search directly through your scripts?

Page 14: How do you access genomics data? Barts Health Innovation Sept 2014

Search would be easy

Page 15: How do you access genomics data? Barts Health Innovation Sept 2014

figshare.com

Overview would be simple

Page 16: How do you access genomics data? Barts Health Innovation Sept 2014

Collaboration would be easy

Page 17: How do you access genomics data? Barts Health Innovation Sept 2014

My research

Through your daily work routine you gain visibility

for potential collaborators

Page 18: How do you access genomics data? Barts Health Innovation Sept 2014

You would discover new resources you did not

know existed

Page 19: How do you access genomics data? Barts Health Innovation Sept 2014

Making your contribution would be easy

Page 20: How do you access genomics data? Barts Health Innovation Sept 2014

We are building a tool for you

Interested? Sign up for our beta at nucleobase.co.uk

Page 21: How do you access genomics data? Barts Health Innovation Sept 2014

We are building a tool for you

Interested? Sign up for our beta at nucleobase.co.uk

Adrian Alexa CTO & Data Scientist

Fiona NielsenFounder & CEO

Page 22: How do you access genomics data? Barts Health Innovation Sept 2014

And we are looking for more great people to make this happen. Interested? Get in touch

[email protected]

Thanks for listening!