BioNano Genomics announced Oct. 8 that it has entered a research collaboration with the University of California, Los Angeles.
The research is intended to look at the role of structural variations in human genetic pediatric disorders using BioNano Genomics' genome mapping platform, the Irys System. The collaboration will focus on studying the role of structural variations in the undiagnosed patient population.
The principal investigator of this collaboration will be Dr. Eric Vilain, of the David Geffen School of Medicine at UCLA. Vilain and his team will use two Irys Systems to conduct research on samples obtained from about 80 undiagnosed patients, with a predominantly pediatric population.
“We know that single nucleotide variants in the coding regions of genes only explain a minority of our patients,” Vilain said. “The BioNano Genomics' Irys System finally allows us to study the large parts of the genome that standard NGS cannot access. Our goal is to achieve a molecular diagnosis for all of our patients, and we look forward to discovering how the Irys System can contribute to that."
Irys' next-generation mapping can provide insights into the biology of the genome based on the order, orientation, arrangement and interaction of genomic components. It provides a comprehensive view of the whole genome via single molecule imaging, facilitating high resolution de novo mapping without the guidance of a reference genome.