Bionano Genomics, Inc. (NASDAQ:BNGO), pioneer of optical genome mapping (OGM) solutions on the Saphyr® system and provider of NxClinical™ software, the leading solution for visualization, interpretation and reporting of genomic data, today announced a peer-reviewed publication in Nature detailing the development of NeuroSCORE, a software-based method of analyzing complex genetic conditions that predicts and prioritizes human genes contributing to neurodevelopmental disease (NDD), including autism spectrum disorder (ASD), epilepsy and birth defects of the brain.
The Neurogenic Systematic Correlation of Omics-Related Evidence, or NeuroSCORE, was developed at Bionano, with a goal of identifying over 1,000 new genes that impact brain development, thereby hoping to improve research into candidate disease genes, diagnostics and, eventually, therapeutics. Using a multi-phase approach, more than 18,000 genes were identified and scored based on known phenotype data, gene expression models, mouse models, and case-control human samples. The paper was previously published as a pre-print and is now published in Nature after having gone through the peer review process. In the paper, researchers sought to narrow the pool of uncharacterized genes to those most important in identification of NDD.
“We were pleased the Nature family of journals recognized the significance of this advancement in data analysis. We believe that our proprietary NeuroSCORE model will assist in more efficiently and accurately interpreting variants of unknown significance and identifying previously uncharacterized neurodevelopmental disease. We believe this model may also assist in the discovery of novel genes not previously associated with central nervous system (CNS) diseases, research that may improve diagnostics for individuals with genetic causes of neurological conditions. The utility of this type of software has the potential to be broad ranging, including known disorders such as ASD and other NDDs, but also as part of resolving rare undiagnosed genetic disorders, or RUGDs. We feel a strong sense of accomplishment in creating a tool to help guide research in NDDs and that may assist clinicians in guiding interventions,” commented Erik Holmlin, PhD, president and chief executive officer of Bionano Genomics.
The paper is available at: