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Anticipating AGBT

Amy Cullinan
| Feb 14, 2012

It is genuinely amazing to see the progress made in next-generation sequencing (NGS) in the last few years. We all know the almost unbelievable story of how 2nd generation sequencers went from less than 1 Gb per run to about 1000 Gb per run in just five years. A HiSeq® system produces as much data as 60,000 capillary sequencers!

But what impresses me most is the incredible science that is being enabled by NGS.  This is reflected in the content being presented at the 2012 AGBT meeting. Many of the abstracts do not even list the platform being used—instead, they're focused on the science.

The incredibly complex story around coding and non-coding RNA has genuinely surprised us all out of our overconfident stance that we were beginning to understand the functional genome. The 2nd generation sequencers are now letting us peek into the genome, epigenome, transcriptome, and the amazing interactions between proteins and nucleic acids to reveal an incredibly complex wiring diagram. This is exciting stuff! And AGBT promises to reveal even more.

My preliminary analysis of the abstracts submitted at AGBT reflects this transition from a focus on technologies to science.  Abstracts related to sample prep make up the majority (about 17%), with targeted sequencing (exomes & amplicons) and informatics at about 15% each. The high proportion of targeted sequencing abstracts reflects a heartening trend towards greater clinical adoption of NGS.

abstracts1Technology makes up only 6% of the total abstracts, but it's going to get quite a bit of attention.

Most likely the buzz is going to be around 3rd gen technologies, especially those from Oxford Nanopore. It has taken 20+ years for the nanopore concept to potentially become a viable sequencing system. Oxford Nanopore Technologies is likely to show real data with the all-important accuracy metrics. I am expecting that the data will be from 1000+ nanopores with read speeds of milliseconds per base.Similarly, other nanopore methods will be presented (example: Nabsys, with a sequencing-by-hybridization based approach with regions of dsDNA on a ssDNA template being read by translation though a nanopore). GnuBio also has an interesting platform, also based on sequencing-by-hybridization, with a fluorescent readout in microdoplets that could potentially deliver 1 Kb plus reads.

I hope to capture more information from the talks and posters at AGBT and share them with those who are unable to get past security. And yes, there will also be live tweets, as you can see in the feed next to this blog. So stay tuned for more from Marco Island.