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 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.
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