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BioNano and UCLA to study structural variations in human genetic pediatric disorders

Genome analysis tools provider BioNano Genomics has signed a research collaboration agreement with the University of California, Los Angeles (UCLA), to undertake research on the role of structural variations in human genetic pediatric disorders.

The partners will use BioNano’s Irys system for the study.

Irys system uses NanoChannel arrays incorporated within the IrysChip to image genomes at the single-molecule level with average single-molecule lengths of about 350,000 base pairs.

UCLA Clinical Genomics Center co-director Dr Eric Vilain will be the principal investigator of the study, which will focus on studying the role of structural variations in the undiagnosed patient population using next-generation mapping (NGM) capabilities of the Irys system.

Vilain said: "The BioNano Genomics’ Irys System finally allows us to study the large parts of the genome that standard NGS can’t 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."

The research team will use two Irys systems to carry out research on samples obtained from around 80 undiagnosed patients from among pediatric population.

Irys’ mapping is said to provide insights about the biology of the genome based on information on the order, orientation, arrangement and interaction of genomic components.

It also offers a comprehensive view of the whole genome through single molecule imaging, enabling high resolution de novo mapping without the guidance of a reference genome.

BioNano Genomics president and CEO Dr Erik Holmlin said: "We are thrilled to collaborate with such a world-renowned institution to further demonstrate the importance of genome mapping in understanding the role of structural variations in causing genetic disorders.

BioNano is also partnering with DNAnexus to expand access to next generation mapping. The firm will work together to offer access to BioNano’s genome analysis algorithms and pipeline (IrysSolve) on the DNAnexus Cloud Genomics Platform.