Bionano Genomics Inc. (NASDAQ: BNGO) reported that 28 publications describing the use of optical genome mapping for rare disease analysis were released in the first quarter of 2026, representing a 56% increase from the same period in 2025. The company said the total number of samples analyzed in these studies reached 78, up 225% from 24 samples analyzed in Q1 2025 publications.

The studies came from institutions across Europe, Asia, South America, and the United States, according to the San Diego-based company's statement. The research focused on optical genome mapping's ability to identify structural variants often missed by traditional methods including karyotyping, fluorescence in-situ hybridization, chromosomal microarrays, next-generation sequencing, and long-read sequencing.

The publications covered conditions including neurodevelopmental, neuromuscular, neurodegenerative, immunological, and malformation syndromes. Two studies involving European and USA-Taiwan cohorts showed optical genome mapping increased diagnostic yield by 5-17% after prior negative whole genome sequencing results.

A Japanese study analyzing 30 cases found that optical genome mapping improved characterization of structural variants in 46% of cases. In 23% of cases, the technology identified gene-disrupting events including complex rearrangements that other methods had missed.

Several studies focused on Duchenne Muscular Dystrophy, where precise characterization of genetic variants is important for therapy selection. Research from Medical College of Wisconsin and Children's Wisconsin identified a novel inversion in the DMD gene that had previously gone undetected. A Chinese study showed how optical genome mapping enabled precise assessment of DMD exon duplications.

The company develops genome analysis solutions including optical genome mapping technology, diagnostic services, and analysis software for research and clinical applications.