It’s hard to believe the whirlwind of the annual Advances in Genome Biology & Technology meeting is already over! The DNAnexus team had a terrific time at the conference, and we want to thank everyone who stopped by our suite and attended our Friday afternoon talk.
The talks we found most interesting were about applications of next-gen sequencing technologies, ranging from clinical sequencing to epigenetics to microbiome studies. Christine Eng from Baylor College of Medicine spoke about whole exome sequencing in the clinic, noting that her team’s pilot project saw a 25% success rate (conservatively estimated) in using this information to diagnose a disease. She also said that clinical genomics will have trouble ramping up without more genetic counselors and geneticists; at the moment, there are just 3.5 such experts per million people in the US. In another talk, Leonid Moroz from the University of Florida captured attendees’ imaginations with a discussion on the biological mechanisms underlying memory persistence. He focused on epigenetic changes in the brain, finding that demethylation of just one strand of DNA seems to precede the formation of long-term memories in model organisms. Finally, the most-discussed talk of the conference came from Kjersti Aagaard at Baylor College of Medicine, who spoke about metagenomics in medicine. She presented data indicating that the placenta is not a sterile environment as previously thought, and that the placental microbiome is most closely related to the oral microbiome. For this technology audience, it was a real treat to see just how much compelling science is happening because of the sequencing tools that have been presented in previous years at AGBT.
It’s clear to us that the focus is rapidly moving from sequencing technologies and toward data interpretation as the real immediate technological challenge in the genomics community. This year, there were a number of companies presenting analysis tools, including Maverix Biomics, Ingenuity Systems, Personalis, and more. In fact, there seemed to be many more of these types of tools on display instead of the usual plethora of next-generation sequencing technologies that people tend to expect from the Marco Island conference. It was a fairly quiet year for instruments — no major sequencing technology headlines came out of the meeting — so it was great to have lots of attention on data interpretation and the tools enabling it.
We hope that we were able to offer conference attendees an optimistic view of the data analysis situation. People who came to our suite had the opportunity to get a guided tour of the new DNAnexus, and we were pleased at how much interest there was in a customizable cloud-based solution for managing and analyzing sequence data. We hosted several demos and have been thrilled to see how many people from the meeting have signed up for beta accounts with the new platform to help tame their own data sets.
Though scientists are certainly facing new challenges in data analysis, we think this is a great time for informatics innovation. Services such as the new DNAnexus, combined with great new algorithms and Apps, are helping to pave a path forward for a new era of genomics analysis in which infrastructure, workflow, and interpretation options are as seamless and simple as they should be.