The $1,000 Genome, the $1 Million Interpretation

[natgenex]

A full-length video of my talk at the NIH symposium to mark the 10th anniversary of the Human Genome Project has just been posted:

http://bit.ly/KDHGP10

This is a broad overview of the road to the $1,000 Genome, with observations on the Reference Genome, the state of next-gen sequencing, and the clinical impact of NGS. (I also have some fun at Francis Collins' expense...)

Other speakers at the DNA Day symposium (April 25, 2013) included Collins, Ewan Birney (EBI), David Botstein (Princeton), Levi Garraway (HMS), and Sara Tishkoff (Penn). All videos are posted at the NHGRI's Genome TV channel on Youtube.

[Dakduif]

Thanks for the upload, I thought it was a very informative talk!
Lots of things were mentioned that I had forgotten about, so it was nice to have my memory refreshed.

Oof, a lot has happened in 10 years. Rather amazing when you think about where we are now. And I'm excited to know what more innovations we will see in the coming decade!

[james hadfield]

Time is on our side in running NGS experiments.

I just met with a user yesterday who wrote a grant 18 months ago to sequcne the exomes of 300 patients. Now he'd like to start.

When the grant was written exomes cost 3 or 4 times as much to sequence. Many labs were still running single-capture reactions and Nextera capture was only an idea.

Today we are looking at using the rapid exome and seqeuncing 6 samples per lane on HiSeq. If we actualy do the sequencing towards Christmas maybe Illumina's new flowcells wil be ready and we'll run 12 samples per lane on 2500.

I conservativley sugested he up his sample numbers to 1000 and I think he can afford it!

[Dakduif]

Sequencing: yes. But what about the torrent of information that would produce? Who's to say his servers will be able to process 1000 exome sequences?