Large Variants and Even Larger Cohorts: Recapping ASHG

We had a blast as ASHG last week, and wanted to thank all the attendees who stopped by our booth. We were delighted to meet you all!

If you couldn’t make it to ASHG, a couple of running themes dominated the sessions and conversations: mega-scale studies, and the evolution of studying variants more complex than SNPs.

It wasn’t so long ago that a 100-person study would have led to an impressive talk at ASHG. But this year, speakers routinely cited studies with tens of thousands, or even hundreds of thousands, of participants. From the Million Veteran Program to the Estonian Biobank, these programs are adding so much to genetic databases that scientists are finally getting a handle on complex hereditary traits such as height. Amid these studies, though, was a continuing push to better represent more ethnic groups to achieve real diversity in publicly available databases. We wholeheartedly support those efforts. Without breaking the barriers of underrepresented groups, we will never achieve precision medicine for everyone.

Another shift came from variant discovery and analysis. More and more, scientists are pushing past SNPs to focus on larger structural variants. The community’s initial focus on SNPs was guided by technology — we could spot single variant changes, so that’s what we looked for — but with improvements to sequencing and other analysis tools using high molecular weight DNA, it is now possible to detect structural variants more comprehensively and reliably. These variants have already been demonstrated to cause diseases, and it was evident at ASHG that finding and cataloging them is a major priority for the genetics field to better understand genome function.

Thanks again for catching up with us in Orlando, and we’re already looking forward to ASHG 2018 in San Diego!

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