Bionano Genomics announced the publication of the first multi-site study in multiple myeloma comparing optical genome mapping, OGM, to traditional cytogenetic methods for the detection of structural variants. Key findings: Compared to FISH, OGM achieved 100% sensitivity, specificity, and accuracy in cases after CD138 selection and 96.6% sensitivity, 100% specificity, and 98.3% accuracy in unselected cases; OGM detected gains of chromosome 1q in several samples, a known high-risk factor in MM; OGM revealed 18 hyperdiploidy, 4 hypodiploidy, and 9 IGH or MYC rearrangements undetected by FISH; In 18% of cases, OGM identified chromoanagenesis that was undetected by FISH; In 18% of cases, OGM changed the prognostication beyond that indicated by standard cytogenetics/FISH analysis; OGM detected 366 novel structural variants and copy number variants that are potentially relevant to the formation and development of MM.
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