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.
- 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
- 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.
- 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.
About Andreas Scherer
Dr. Andreas Scherer is CEO of Golden Helix. The company has been delivering industry leading bioinformatics solutions for the advancement of life science research and translational medicine for over a decade. Its innovative technologies and analytic services empower scientists and healthcare professionals at all levels to derive meaning from the rapidly increasing volumes of genomic data produced from next-generation sequencing. With its solutions, hundreds of the world’s hospitals and testing labs are able to harness the full potential of genomics to identify the cause of disease, develop genomic diagnostics, and advance the quest for personalized medicine. Golden Helix products and services have been cited in thousands of peer-reviewed publications. Golden Helix is also on the Inc 5000 list of the fastest-growing private companies in the US.
He is also Managing Partner of Salto Partners, Inc, a management consulting firm headquartered in Nevada. He has extensive experience successfully managing growth as well as orchestrating complex turnaround situations. His company, Salto Partners, advises on business strategy, financing, sales, and operations. Clients are operating in the high-tech and life sciences space.
Dr. Scherer holds a Ph.D. in computer science from the University of Hagen, Germany, and a Master of Computer Science from the University of Dortmund, Germany. He is author and co- author of over 20 international publications and has written books on project management, the Internet, and artificial intelligence. His latest book, “Be Fast Or Be Gone”, is a prizewinner in the 2012 Eric Hoffer Book Awards competition, and has been named a finalist in the 2012 Next Generation Indie Book Awards!
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