Aaron Quinlan and Ryan Layer's work on GQT is another nice example of 
compression facilitating big-data genomics.  It's been 
presented<http://quinlanlab.org/publications.html#Lectures> and the code is 
open-development/open-source<https://github.com/ryanlayer/gqt> but as far as I 
know it's still unpublished.

--
Joshua J. Waterfall
Senior Research Fellow
Genetics Branch, CCR, NCI, NIH
[email protected]
@JoshWaterfall

________________________________
From: Davis, Sean
Sent: Wednesday, July 08, 2015 4:18 PM
To: List BIOINFO-GENERAL-NCI
Subject: Re: interesting article on coming scale of genomic data

Thanks, Tony.

That article is nice in that it makes explicit comparisons to known big 
datasets; for many folks (myself included), talk of exabytes is simply hard to 
fathom out-of-context.

There is a very active field of research working to address the data growth 
issue in genomics.  A few recent papers give overviews and implementations of 
compression.  Beyond compression, graph-based genomes offer incredible benefits 
for data processing as well as compression.

http://www.ncbi.nlm.nih.gov/pubmed/24347576
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932469/
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479802/

The latter link describes a compression strategy for genomics data of ~9500 
fold.

https://www.genomeweb.com/business-news/seven-bridges-use-195m-genomics-england-grant-commercialize-graph-based-genome-tool

I saw a talk about this approach and the authors suggested that their testing 
of graph-based genome encoding could lead to 100k genomes being stored in 16GB 
(unpublished, as far as I know).

Of course, the devil is in the details, but the data sizes doomsday articles 
quote do not often directly address the incredible opportunities for 
compression that exist for genomics data.  The reason for slow adoption of 
these compression strategies is that the compressed data need to be ingested by 
other tools to be useful and tools that do so don't exist yet.  If a 
compression standard emerges or we get a graph-based genomic standard, we may 
see storage issues become less concerning and will, instead, inherit a new set 
of analytical and data processing opportunities and challenges.

Sean



On Wed, Jul 8, 2015 at 2:49 PM, Kerlavage, Anthony (NIH/NCI) [E] 
<[email protected]<mailto:[email protected]>> wrote:
 http://journals.plos.org/plosbiology/article?id=10.1371/journal.pbio.1002195



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