Announcement • May 07

Bionano Genomics Announces Increase in Publications Describing Utility of Optical Genome Mapping in Rare Diseases

Bionano Genomics, Inc. reported that 28 publications describing the utility of optical genome mapping (OGM) for analysis of rare diseases were released in the First Quarter 2026, representing an approximately 56% increase over last year. The total number of samples analyzed, 78, represents a 225% increase compared to the number analyzed in studies published in the First Quarter 2025 (24). Publications describing OGM use in rare disease research come from institutions all around the world, including from Europe, Asia, South America, and the United States. These studies describe the ability of OGM to enable clinical researchers to identify, characterize and interpret relevant structural variants (SVs) often missed by traditional cytogenetic methods such as karyotyping, fluorescence in-situ hybridization (FISH) and chromosomal microarrays (CMA) as well as next-generation sequencing (NGS) and long-read sequencing (LRS). They encompass a broad range of conditions, including neurodevelopmental, neuromuscular, neurodegenerative, immunological, and malformation syndromes. Key takeaways from 14 of the 28 publications are summarized in key categories below, all highlighting the unique value of OGM and its complementarity with sequencing. OGM continues to demonstrate value in rare disease cases, where approximately 60% remain genetically unexplained after analysis by standard methods. Two studies in multisite European (n=57 trios), and USA–Taiwan (n=29) cohorts show that OGM increases yield by 5–17% after prior negative whole genome sequencing (WGS), and in some cases LRS. OGM identified previously missed SVs across a wide range of variant types, including balanced and unbalanced SVs, and complex rearrangements, some of which were more difficult to detect with only LRS data due to genomic complexity. Together, these studies underscore how OGM can be a powerful tool for helping to solve unresolved cases and uncover cryptic genomic variations that other methods miss. A study from Japan analyzed 30 cases with copy number variations (CNVs) and SVs that had been initially characterized by sequencing, and showed that OGM, alongside targeted LRS, improved the characterization of these SVs in 46% of cases. In 23% of the cases, including some in which LRS was constrained by read length, OGM findings unraveled significant novel gene-disrupting events including complex rearrangements and repetitive regions. Two studies from Brazil demonstrate the use of OGM to precisely identify the breakpoints of inversions affecting the SOX3 and SYT1 genes, both involved in malformation syndromes. By pinpointing these SVs, OGM was pivotal in linking the genetic alterations to dysregulation of these genes in gonadal tissue and in neurons, thereby providing a genetic link to the observed phenotypes. A paper outlining international guidelines with authors from the US, Latin America, Europe and Asia, recommends use of OGM to confirm structural variants initially identified by NGS. A German study shows that OGM resolved a case by identifying a homozygous deletion in KIF1C that was missed after both whole-exome sequencing (WES) and WGS. A study from Turkey and Austria demonstrates that combining OGM with NGS enabled reclassification of an apparent heterozygous point mutation to a compound heterozygous event with an SV affecting the TMC6/TMC8 tumor suppressor genes that was seen with OGM. Other studies show that while SV detection by LRS has improved, OGM is useful for detecting larger SVs and helps to reduce false positives associate with LRS. In a study of Parkinson’s disease in Germany and the US, OGM identified more variants than LRS with better accuracy, particularly in the 50–80 kbp range. A study from Spain and the Netherlands used OGM alongside LRS to study two families with angioedema, including a 20-year long genetic odyssey. OGM identified a previously missed insertion that was later confirmed to be an immobile element linked to the disorder. A study between Sweden and the US demonstrated that OGM enables complete reconstruction of a complex derivative X chromosome that could not be fully resolved by LRS. Understanding precise breakpoints is critical across rare diseases, as it enables accurate molecular evaluation, informs genetic counseling, and has important implications for emerging gene-editing–based therapeutic strategies. Duchenne Muscular Dystrophy (DMD) is a prime example where accurate characterization of exon–intron disruptions is essential, as many therapies are designed for specific variant classes and therefore depend on precise genetic definition. OGM has been demonstrated to be a powerful tool in DMD, as illustrated by several studies. A collaborative study between Medical College of Wisconsin and Children's Wisconsin and University of Illinois-Chicago in the US, reported a case with persistent negative findings was resolved using OGM and LRS, which identified a novel inversion in the DMD gene. A study from China described how OGM enabled precise assessment of DMD exon duplications by resolving their genomic structure and insertion sites. OGM findings clarified a previously unexplained case with a dual phenotype involving both DMD and spinal muscular atrophy (SMA), where the SMA-associated mutation had been identified, but the DMD component had remained unresolved prior to OGM. A study by Cincinnati Children's Hospital Medical Center from USA on three samples with intragenic DMD duplications showed that OGM revised classification. In two cases, duplications were found outside the gene and reclassified as likely benign, while in one case a tandem duplication within the gene was classified as pathogenic, directly impacting management decisions. These findings in DMD are consistent with observations across other rare diseases, where OGM similarly improves the detection and clinical research interpretation of complex SVs.

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