Final thoughts on ACMG 2017

      Andreas Scherer    March 28, 2017    No Comments on Final thoughts on ACMG 2017

Last week was fast and furious for those of us who made it to Phoenix attending ACMG 2017. The event was exceptionally well attended, with great talks and sessions. Here are some of the highlights that are worth mentioning from our perspective.

  1. Numerous talks referenced how important the updated Exac/gnomAD database is for clinical NGS analysis. The new dataset includes variants obtained from 123,136 exome sequences and 15,496 whole-genome sequences. It more than doubled compared to the original database. Luckily, we had anticipated the importance of this. We ship gnomAD with our VarSeq suite. Please take a look our blog post from mid March: gnomAD
  2. Our newly shipped CNV capability for clinical exomes was a magnet during the show. About 50% of the in-booth conversations covered this topic. Certainly, PreventionGenetics’ tweet at the beginning of the conference added fuel to the fire.
  3. We distributed all of our eBooks and t-shirts. The absolute crowd favorite was the tiger t-shirt as a onesie, though.  We had to promise to bring more next time…

We were delighted to meet up with so many customers and prospects during this event. We are looking forward to the next ACMG meeting on April 10 – 14, 2018 in Charlotte, NC.

 

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