AGBT 2019 Re-Cap

AGBT 2019 was a smashing success this year. Featuring a triumphant return to Marco Island FL with postcard perfect weather, the science was (as usual) top-notch. The renovated Marriott greatly upgraded its conference facilities and added an attractive new tower with roof top pool and game room.

By way of recap, single-cell sequencing continues to be a dominant topic. We particularly enjoyed the talk by Jiannis Ragoussis from McGill University, providing a comprehensive expression analysis of 20,000 Glioblastoma cells, offering insight on how significant these tools can be for medical research. Spatial profiling created the biggest buzz, and the Broad Institute’s Evan Macosko’s presentation on Slide-Seq (a method where RNA is transferred from freshly frozen tissue sections onto a surface covered in DNA-barcoded beads) generated a lot of interest.

Surprising to us – if that concept can even be applied to AGBT – were the advances in genomic structure and straight up genome sequencing. We saw quite a bit of Hi-C data: Wendy Bickmore from the University of Edinburgh gave a great talk (“spatial organization of the human genome”) looking at long-range gene regulation, and Katherine Pollard from the Gladstone Institute at UCSF (“A population view of human chromatin structure”) gave a biophysical approach to examining the effect of mutations on structure. Ting Wu from Harvard provided a fascinating update (“looking at chromosomes”) on direct visualization of chromosome structure using Oligopaints and other novel methods.

For excellence in genome sequencing, NHGRI’s Adamy Phillipy’s talk, “Telomere-to-telomere assembly of a complete human X chromosome” was inspiring and used many long-range and long-read techniques, including the Oxford Nanopore Promethion (in collaboration with UC Santa Cruz’ Karen Miga, who gave a separate talk on their pipeline). Mike Hunkapiller from PacBio showed very nice gapless assemblies of the notoriously difficult SMN1 and SMN2 genes using the closed consensus sequencing method on the Sequel platform.

As for us at Sage Science, we had a relaxing beach-side Lanai suite. Aside from co-hosting a Queen-the-band themed party with Seqwell (Genomian Rhapsody), we presented a SageHLS poster that used the HLS-CATCH method to sequence the PKD1 pseudogene (our other in-suite posters can be viewed here). We believe that HLS-CATCH purification of long genomic targets can be a great tool for helping resolve difficult regions in the genome – like the aforementioned pseudogenes, other repeat elements, and SVs– and hopefully helping efforts to produce more complete genomes and understanding the function of genome structure.

Obviously, it is impossible to truly summarize such an intensive meeting- but we would like to give an additional shout out to John Charles from NASA who came down to give an update on Mars Mission plans– what could be cooler than that? On another note, next year’s meeting will mark the 20-year anniversary of AGBT. We’re sure there will be something extra-special in store, look forward to more great science!

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