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Progress Update for the Multisite Optical Genome Mapping Evaluation and Validation Study: Prenatal Applications

2023-12-26 genetic and genomic medicine Title + abstract only
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Optical genome mapping (OGM) is an emerging technology with great potential for prenatal diagnosis. OGM can identify and resolve all types of balanced and unbalanced cytogenomic abnormalities in a single test, which are typically assessed by multiple standard of care (SOC) methods including karyotyping, fluorescence in situ hybridization and chromosomal microarray. To assess OGMs viability as an alternative to conventional SOC testing, a comprehensive clinical research study was conducted acros...

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