As we start to make lists of New Year’s resolutions (with bets on how long they’ll last), it’s the perfect time for a moment to absorb the themes and highlights of 2017. In our corner of the world, that means impressive advances around HMW DNA and long-read sequencing; novel biological insights about infectious disease, cancer detection, and more; plus new and improved sample prep methods for DNA sequencing.
For us, one of the breakthroughs of the year came in the form of CATCH, or Cas9-assisted targeting of chromosome segments. This method from Yuval Ebenstein and collaborators allows users to target large or complex regions of the genome for cost-effective sequencing. The innovation is based on CRISPR, taking advantage of the precise activity of Cas9 guide enzymes to snip out the region of interest. The original method, which relied on gel electrophoresis, was improved by swapping in the SageHLS instrument for a more streamlined and automated process with excellent recovery.
If you polled the Sage team about the best part of our jobs, it would be unanimous: getting to know our customers! This year, we had the honor of profiling great work from Anna Selmecki at Creighton University, who is using BluePippin to boost library recovery for investigations into genome instability in fungi, and the Broad Institute’s Michelle Cipicchio, who helps optimize methods before they are put into production. She has been using the PippinHT platform to get the best results from the 10x Genomics Chromium system.
Of course, we also spend plenty of time keeping up with the literature — especially the growing number of preprints. One of our favorite studies this year came from scientists in Brazil who reconstructed the transmission path of a recent chikungunya outbreak in their country. The team’s budget was tight, but their results show just how much can be accomplished with creativity and a little help. We were also particularly impressed by a preprint from UK scientists who demonstrated that size selection can significantly improve results from circulating tumor DNA studies, with implications for liquid biopsies in general. And the field of long-read sequencing continued to heat up, with lots of advances including this great comparison of PacBio and Oxford platforms for transcriptome analysis.
As always, we enjoyed hearing from luminaries in the genomics field through Mendelspod interviews this year. If you missed the podcasts with Mark Akeson, Deanna Church, Yuval Ebenstein, or Evan Eichler, we recommend carving out some time to listen.
From all of us at Sage Science, we wish you and yours a healthy and happy holiday season.