Benzinga | Oct 20, 2021 08:07AM EDT

Bionano Genomics Says Presentation At ASHG Showcases New Capabilities For Optical Genome Mapping With Detection Of Allelic Imbalance And Absence Of Heterozytgosity Further Expanding Its Utility In Revealing More Clinically Relevant Variants

Bionano Genomics, Inc. (BNGO), developer of the Saphyr(r) system that uses optical genome mapping (OGM) for the detection and analysis of structural variants (SVs), today announced that Bionano scientists presented a poster at the American Society of Human Genetics (ASHG) conference that showcased new capabilities for OGM on the Saphyr(r) system with detection of allelic imbalance and absence of heterozygosity (AOH), which further expands its utility in revealing more clinically relevant variants. These new OGM capabilities are expected to be released to Bionano's customers in upcoming versions of our Access and Solve(tm) software.

Regions with AOH, also referred to as loss of heterozygosity, regions/runs of homozygosity, or long continuous stretches of homozygosity are routinely used by researchers to gain genomic insights into the progression of various cancers and determine susceptibility for recessive disorders. For example, some regions with AOH may be indicative of uniparental isodisomy (UPD) or regions of the genome identical by descent (IBD).

In the poster presented at the ASHG conference titled, "Optical genome mapping capability expanded to enable detection of absence of heterozygosity," the study's authors, Rao, et al., describe a method for AOH detection based on OGM results from the Saphyr(r) system. Measurement and representation of allelic imbalance enables OGM to detect triploidy and other chromosomal imbalances and may shed light on mosaic SVs. This capability could further expand the utility of OGM in constitutional genetic disease research.

Erik Holmlin, PhD, CEO of Bionano Genomics, commented, "This new capability for OGM helps strengthen our ability to support comprehensive genome analysis for cytogenomics and molecular pathology laboratories. We believe the detection of triploidy, regions associated with imprinted chromosomal disorders and IBD substantially improves the utility of OGM for clinical research applications. This increased utility could make the adoption of the Saphyr(r) system more compelling for labs seeking to compliment SNP-based microarrays and next-generation sequencing."