Last week’s Advances in Genome Biology and Technology (AGBT) meeting was every bit the fast-paced roller coaster ride we were anticipating. As expected, there were no major leaps announced by the established vendors, although Illumina, Life Tech’s Ion Torrent, and Pacific Biosciences all had a big presence at the conference.
The biggest splash by far came from Oxford Nanopore Technologies, which emerged from stealth mode with a talk from Chief Technology Officer Clive Brown. The company’s technology sequences DNA by detecting electrical current as the strand moves through a nanopore. Brown said the technology had been used successfully to sequence the phi X genome (a single 10 KB read got the sense and antisense strands) and the lambda genome (a 48 KB genome also covered in a single pass). Brown reported raw read error rate of 4 percent, mostly caused by the DNA strand oscillating in the nanopore instead of moving smoothly through it. Other significant features: the nanopore can read RNA directly, detect methylation status, and be used directly from a sample (such as blood) – no prep required.
What I thought was most interesting, though, was that at a meeting known for being wall-to-wall sequencing technology, this year’s event really focused more on two arenas: clinical genomics and data analysis. The conference kicked off with a session on clinical translation of genomics, with speakers including Lynn Jorde from the University of Utah and Heidi Rehm from Harvard. Both talked about the key challenges in data analysis and interpretation, with Rehm in particular stressing the need for a broadly accessible data platform with clinical-grade information that could be ranked with confidence level and would pull data together from a variety of disparate sources. Notably, the clinical talks generally were limited by small sample sizes, and sometimes wound up with results that were inconclusive in recommending a particular course of treatment. That’s to be expected in the early stages of moving sequence data into a clinical environment, of course, but it also underscores the opportunities here once low-cost sequencing becomes widely available.
The trend was clear: data, data, data. And the only way to make the most of all that data will be to pave the way to an environment where information can be accessed and shared easily, with as many tools as possible to interrogate, analyze, and validate it.