AGBT stands for Advances in Genome Biology and Technology, and since Bionano is all about that we had a strong presence at AGBT’s 2019 General Meeting in Marco Island, Florida, Feb 27th – March 2nd. We utilized the Bionano lanai suite to host daily talks, and made sure to record these presentations for those of you who couldn’t make it.
First up was Bionano’s own Sven Bocklandt, Director of Scientific Affairs, who introduced three exciting new products and features (also discussed in this press release)::
- An entirely new DNA isolation method to prepare megabase-size genomic DNA from fresh or frozen blood and cultured cells in as little as 3 hours
- A new high-throughput, 3-flowcell chip that allows the latest Saphyrs to run 6 human genomes per 24 hours at 100x coverage, or as much as 400x coverage on 3 genomes in less than 48 hours
- A new suite of algorithms that can detect all major SV types present in as little as 5% allele fraction, and CNVs in 10% allele fraction
Next up was Professor Alex Hoischen from Radboud University Medical Center in Nijmegen. Dr. Hoischen’s team is evaluating Saphyr as a tool to potentially replace traditional cytogenetics in Radboud’s medical genetics clinic. He presented data on the first three leukemia genomes, and showed that Bionano identified variants detected with three separate assays in a single test. Take a minute to watch the video of his presentation, or have a look at the slides.
We ended our mini series of talk with Amir Trabelsi, CEO of Genoox. He introduced his company’s integrated platform to detect structural variations by combining Bionano’s SV calls with short-read NGS data. By using Bionano’s ultra-sensitive and specific SV detection to guide the alignment of short reads, Genoox’ pipeline can now find the Bionano SVs in the NGS reads and identify the SV breakpoints to single digit basepairs. Watch his presentation, or check out his slides.
With higher throughput on Saphyr, easier and faster sample prep, detection of low allele fraction SVs, exciting clinical validation studies AND a powerful integration with NGS data, 2019 is starting off with a bang for Bionano. We couldn’t be more excited about what this year will bring!