AGBT in Review: Long-Range Data for Better Genome Insight

AGBT is behind us, which means the Sage Science team is officially back to the land of fleece and flannel. We had a great time at the conference and especially enjoyed seeing all the attendees making the most of our selfie sticks on the dance floor at the closing party!

The final AGBT sessions were every bit as interesting as the rest of the meeting. Nick Loman’s talk describing the use of Oxford Nanopore MinIONs during the recent Ebola epidemic in West Africa was an amazing glimpse of the kind of field-based sequencing we’ve dreamed of for a long time. His observation that the weak link in the system was the need for a constant Internet connection (required for the sequencer’s base-calling software) underscores the basic logistical challenges we face in achieving our ultimate goal of being able to sequence anything, anywhere, anytime.

The presentation from HudsonAlpha’s Shawn Levy continued the trend of 10x Genomics data, one of the major themes of this year’s AGBT. His emphasis on the importance of phasing and of finding complex events and structural variants mirrors a growing recognition in the community that short-read data will have to be supplemented by other data sources — be it long-read sequencing, Hi-C data, synthetic long reads, genome maps, or something else — for maximum benefit. Dovetail Genomics, which uses a Hi-C approach, was mentioned in several talks at the conference and really seems to be gathering steam in the field.

Normally we’d have a whole year to rest up for the next AGBT, but this September the organization will host its inaugural precision health meeting. We’re eager to see the speaker list and agenda, and maybe even get to experience the Scottsdale, Ariz., meeting in person!

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