Benzinga | Feb 22, 2021 08:05AM EST

Bionano Genomics Highlights Publication Of Study By Its Lineagen Team That Describes First Genome-Wide Model To Assess, Score Nearly All Protein-Coding Genes Based On Likelihood To Cause Central Nervous System Disease

Bionano Genomics, Inc. (NASDAQ:BNGO) announced the publication of a study by its Lineagen team that describes the first genome-wide model to assess and score nearly all protein-coding genes based on their likelihood to cause central nervous system (CNS) disease. The resulting list of high scoring genes enhances Lineagen's clinical interpretation capabilities allowing their genetic counsellors to better interpret variants of unknown significance (VUS), which can improve diagnostic abilities and provide for more precise counseling to patients and families. The gene scoring model can also be integrated into Bionano's analysis software for Saphyr data, allowing scientists and clinicians to quickly identify and filter structural variants based on their increased risk of causing CNS diseases.

The model, called the Neurogenic Systematic Correlation of Omics-Related Evidence, or NeuroSCORE, combines data from five public and proprietary genomics databases containing evidence on whether genes are highly expressed in the adult or developing human brain, have high rates of new genetic variation in people with CNS diseases and have few variants in individuals without neurological disorders. Armed with NeuroSCORE, scientists could discover novel genes not previously associated with CNS diseases, potentially enabling clinicians to more accurately diagnose patients with previously uncharacterized neurodevelopmental disease. These advances may make it possible to better study the complex molecular mechanisms for conditions such as autism spectrum disorder and other disorders of childhood development, which are often caused by a combination of genetic variants affecting multiple genes and pathways.

Erik Holmlin, PhD, CEO of Bionano Genomics commented: "In the twenty years since the first human genome was sequenced, scientists have made countless discoveries about the function and mechanisms of the 20,000 human genes and the proteins they encode. Despite this progress, many thousands of genes are poorly characterized and their function unknown. At the same time, a large number of patients with genetic disease don't receive a molecular diagnosis even after several genetic analyses because many of the identified variants are of unknown significance to the disease. Now, our Lineagen team can better interpret these VUS using our proprietary NeuroSCORE algorithm to diagnose more patients and provide more conclusive answers to families of patients with neurodevelopmental disease. When combined with the power of optical genome mapping with Saphyr, we believe neuroscientists could detect all structural variants genome wide and score them to make new discoveries. The NeuroSCORE publication is a great example of why Bionano acquired Lineagen last year -- so that Lineagen's extensive experience and understanding of genetic diseases, including neurodevelopmental disease, can accelerate advancement of applications for Saphyr."

The publication is available on bioRxiv at https://www.biorxiv.org/content/10.1101/2021.02.04.429640v1