Largest clinical research study to date evaluating optical genome mapping for analysis of facioscapulohumeral muscular dystrophy showed concordance with southern blot and reduced turnaround time by 50% as compared to the traditional workflow

San diego, sept. 29, 2021 (globe newswire) -- bionano genomics, inc. (bngo) today announced the publication of the largest clinical research study to date evaluating optical genome mapping (ogm) for facioscapulohumeral muscular dystrophy (fshd), which concluded that ogm can be performed more quickly, accurately, and reproducibly than the current gold standard method of southern blot analysis. this study, now available online before print in the journal of molecular diagnostics, describes how ogm can be adopted as an alternative to southern blot analysis for the identification of chromosomal abnormalities associated with fshd, a neuromuscular disorder resulting in progressive weakness and atrophy of muscles.
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