BioNano Genomics Stakes Out Sequencing Territory as They Discover Lots of De Novo Variants in Reference Genome Projects

Erik Holmlin, CEO, BioNano Genomics


0:00 How does BioNano fit into the sequencing space today?

7:17 Is the NHGRI now putting out a different definition for what is a genome?

12:08 Sample prep is key

13:55 Reference genomes just a step to de novo genomes in the clinic

19:08 Plant and animal genomics 60-70% of current business

26:26 How is 10X Genomics impacting the field?

If you attended or followed the recent AGBT conference about all things sequencing, you probably saw a few BioNano Genomics t-shirts with the slogan, “Back to the Map.” They’re referring of course, to a genome map. Just like Google Maps, a genome map consists of landmarks that tell scientists where on the genome they are. But unlike Google Maps and more like the maps North America that were made by European explorers in the 17th century, the map of the human genome is quite incomplete, the map of a frontier.

Erik Holmlin is the CEO of BioNano Genomics which offers unique genome mapping technology. In today’s interview, Erik points out that content is not the only king, context is pretty important as well.

“You can go back and look at some of the early discussions that were happening around the beginning of the Human Genome Project. And in fact a lot of the leading scientists of the time, Maynard Olson, Bob Moyzis, and others, emphasized that as we’re doing this sequencing it’s going to be very important that we put the sequence in context of the physical organization of the genome. Otherwise we’re never going to understand it,” Holmlin says.

After the market has become dominated by “short read” sequencing with the race to the $1,000 genome—a drive many say has been steered by the NHGRI—BioNano is now cutting out some territory for their genome mapping technology. Their flagship projects have no doubt been their work on the reference genomes. Erik says that in a recent trio sequencing project of genomes of Ashkenazi Jewish descent, they were able to find “a lot of de novo variants,” or variants which had not been found with other sequencing technologies.

Though Erik has always had his eye on the clinic—in fact, he came to the tools space from the clinical diagnostics industry because he felt passionately that we needed better tools to develop clinically actionable genomic data—he admits at the end of today’s show that his time at BioNano has pulled him more into basic research.

“In some respects I underestimated the need for more basic research,” he says. “And what really needs to happen is we need to get the translational research efforts to focus on the structural picture much more because that’s going to break through and lead to many clinically significant discoveries.”

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