Genoox, Bionano collaborate to enhance the detection of pathogenic SVs

Bionano’s Saphyr combined with new DLS labeling chemistry and a suite of analysis tools has much better sensitivity and true positive rates when calling structural variants of all types than sequencing based methods. While Bionano’s SV calls are sufficient for many applications, some more complex indications require a tight integration with the smaller NGS-called variants. Genoox’ analysis pipeline already provides clinical annotation and analysis of the human genome, based on NGS data. By using Genoox technology for aligning short read sequence data to Bionano’s SV calls, the high sensitivity of Bionano calls should be combined with the basepair precision of NGS. Genoox and Bionano intend to co-sell and co-market the integrated platform for research and future clinical applications when development is completed, likely this summer. Talk to your Bionano Regional Business Manager, or get in touch with us if you’re interested in finding out more, or want to test this platform yourself when it becomes available.