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Study Using OGM in Neural Tube Defects Reveals Previously Unreported Variants and Candidate Genes with Potential Links to the Devastating Birth Defect
SAN DIEGO, and GREENWOOD, S.C., March 24, 2025 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) and Greenwood Genetic Center (GGC) today announced a publication in Genome Research describing the first study to use optical genome mapping (OGM) to investigate the genetic landscape of neural tube defects (NTDs). NTDs are the most common birth defect of the central nervous system and some of the most devastating congenital conditions. Despite an expected genetic link in as many as 60-70% of
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[{"type":"image","alt":"Bionano Genomics","displaySize":"","headline":null,"caption":"Bionano Genomics","className":"","disableSlideshowImg":false,"size":{"original":{"width":300,"height":61,"url":"https://media.zenfs.com/en/globenewswire.com/b39fec01655bcf34db9e215be03042b1"},"resized":{"url":"https://s.yimg.com/ny/api/res/1.2/ylN8_Gs3_qAPxed5dOQIGw--/YXBwaWQ9aGlnaGxhbmRlcjt3PTQyMDtoPTg1O2NmPXdlYnA-/https://media.zenfs.com/en/globenewswire.com/b39fec01655bcf34db9e215be03042b1","width":300,"height":61}},"lazy":false},{"type":"text","content":"SAN DIEGO, and GREENWOOD, S.C., March 24, 2025 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) and Greenwood Genetic Center (GGC) today announced a publication in Genome Research describing the first study to use optical genome mapping (OGM) to investigate the genetic landscape of neural tube defects (NTDs). NTDs are the most common birth defect of the central nervous system and some of the most devastating congenital conditions. Despite an expected genetic link in as many as 60-70% of cases, methods currently in use, including karyotyping (KT), chromosomal microarray (CMA) and next-generation sequencing (NGS), collectively identify pathogenic gene variants in only about 8% of cases, suggesting more work is needed to better understand the underlying genetic drivers of NTDs.","length":799,"tagName":"p"},{"type":"text","content":"In this GGC study, OGM was used to provide a comprehensive, genome-wide analysis of structural variants (SVs) across a study cohort of 104 NTD cases. The key findings include:","length":175,"tagName":"p"},{"type":"list","items":[{"val":[{"type":"text","content":"Detection of SVs with known pathogenic significance in 8% (8/104) of cases, compared to a combined success rate of approximately 6% in NTDs for KT and CMA and consistent with what is typically described in research studies for the combination of KT, CMA and NGS applied to this condition","length":287,"tagName":"p"}]}],"tagName":"ul","bulletedList":true,"length":287,"olType":false},{"type":"list","items":[{"val":[{"type":"text","content":"Detection of SVs that affected genes known to be part of NTD pathways in 13% (14/104) of cases, which would be considered likely pathogenic given their association with known NTD pathways","length":187,"tagName":"p"}]}],"tagName":"ul","bulletedList":true,"length":187,"olType":false},{"ty...