How do you access genomic data? Bart’s Health Innovation Fiona Nielsen [email protected] o.uk Sept 30, 2014
Nov 18, 2014
How do you access genomic data?Bart’s Health Innovation Fiona Nielsen
[email protected] 30, 2014
The frustrated researcher!
How did this happen?
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
What do you do?
Sequence Read Archive
What do you do?
What do you do?
Yikes
What do you do?
PubMed?
What do you do?
What do you do?
Ask your PI
Write application
Apply for access
Wait…Wait…Wait…Wait…
Access requests can take months
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
2006 2007 2008 2009 2010 2011 2012 2013 2014 2015
Genomes Sequenced
~400k genomes produced
And how do you keep up?
What IF?
You could search all available data?
You could rank data by relevance?
You could search directly through your scripts?
Search would be easy
figshare.com
Overview would be simple
Collaboration would be easy
My research
Through your daily work routine you gain visibility
for potential collaborators
You would discover new resources you did not
know existed
Making your contribution would be easy
We are building a tool for you
Interested? Sign up for our beta at nucleobase.co.uk
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
And we are looking for more great people to make this happen. Interested? Get in touch
Thanks for listening!