Presentation at ASHG Showcases New Capabilities for Optical Genome Mapping with Detection of Allelic Imbalance and Absence of Heterozygosity Further Expanding Its Utility in Revealing More Clinically Relevant Variants
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® 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.
Bionano Genomics’ mission is to transform the way the world sees the genome through OGM solutions, diagnostic services and software. Bionano’s genome analysis solutions can enable researchers and clinicians to reveal answers to challenging questions in biology and medicine. Bionano pioneered OGM, which is a workflow for ultra-sensitive and ultra-specific detection of SVs. OGM is enabled on the Saphyr® system, a single-molecule imaging instrument with reagents for isolation and sequence-specific labeling of ultra-high molecular weight DNA and software for SV detection and visualization. Bionano offers OGM solutions for applications across basic, translational and clinical research. Through its
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Source: Bionano Genomics