Bionano Announces Publication Showing OGM can Provide an Accurate and Cost-Effective Solution for Sizing Large Repeat Expansions in Constitutional Genetic Disease

Core Insights - Bionano Genomics, Inc. announced a peer-reviewed publication demonstrating that optical genome mapping (OGM) is an accurate and cost-effective method for detecting and sizing large repeat expansions linked to 40 genetic disorders [1][3] - The study evaluated 85 subjects with known pathogenic expansions in three genes, providing a comprehensive assessment of OGM's capabilities [1][4] Group 1: Study Findings - OGM identified 84 out of 85 pathogenic repeat expansions, achieving a detection accuracy of 98.8% [7] - OGM measured repeat sizes accurately, even for expansions exceeding 7,000 repeat units, indicating no apparent upper size limit [7] - Evidence of somatic instability was found in 36 out of 85 samples, with variability observed in 30% of DMPK samples, 92% of CNBP samples, and 16% of RFC1 samples [7] Group 2: Methodological Advantages - OGM provides a single technique workflow that detects large repeat expansions across multiple loci, potentially reducing turnaround times and lowering costs compared to traditional methods [4][7] - The study highlights OGM's potential to address long-standing challenges in genome analysis, including structural variation and repeat expansion detection [3][4] Group 3: Company Overview - Bionano is a provider of genome analysis solutions aimed at transforming the understanding of the genome through OGM solutions, diagnostic services, and software [5] - The company offers OGM solutions for various applications in basic, translational, and clinical research, along with industry-leading genome analysis software [5]