It is always exciting to attend the AGBT meeting in Marco Island, Florida. Due to the restriction placed on the total number of attendees, the few who can make it to the meetings feel highly privileged.
The AGBT meeting has become the primary showcase for announcing breakthroughs in DNA sequencing technology, such as the Pacific Biosciences single molecule sequencer, which was accompanied by a fireworks display on a bracing night on the beach behind the Marriott hotel. Similarly, the Ion Torrent bus parked on the beach last year, supporting the announcement of the Ion Proton system with the capability to generate more than 100 Gb per run on the Proton II chip.
Last year Oxford Nanopore Technologies formally announced another single molecule sequencing breakthrough technology, GridION and MinION, with the capability to sequence directly from blood or environmental samples.
Illumina had announced the HiSeq 2500 instrument, the first system to sequence a human genome in a day at 40x coverage. The Kingsmore lab demonstrated the significant impact of this technology on clinical sequencing by developing a new method, Stat-Seq, which enables scientists to identify causes of genetic disease in newborns with unprecedented speed.
The content presented at the AGBT meetings is shifting from an emphasis on the sequencing technology to the actual impact on human health. In the 2013 AGBT abstract book, there are about 70+ podium presentations and 250 poster abstracts listed. About 18% of the abstracts are categorized as technology development, nearly 10% of the abstracts are categorized as cancer genomics, 14% as genomic medicine, 4-5% as microbiome studies, and 6% as general biology. Clearly, the topics covered at the AGBT meeting are becoming increasingly diverse.
Some of the most impactful talks last year were the preliminary results from the ENCODE project, which stunned the audience with the unexpected complexity of the human genome. The popular press described this as the death of the “junk DNA” concept. With this increasing interest in genome complexity, it’s not too surprising that there is a greater emphasis on transcriptome analysis (about 10% of abstracts are listed in the “transcriptome” category).
Just like last year, I will be tweeting about some of the presentations and summarizing the presentations and posters on the blog. We are also hoping to capture some of the presenters’ thoughts with a video blog. If you are at AGBT and would like to talk to us about what your group is working on, please stop by at the Illumina lounge so we can connect.