Article

Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method

2024-01-31

Abstract excerpt

Chromosome analysis (CA) and chromosomal microarray analysis (CMA) have been successfully used to diagnose genetic disorders. However, many conditions remain undiagnosed due to limitations in resolution (CA) and detection of only unbalanced events (CMA). Optical genome mapping (OGM) has the potential to address these limitations by capturing both structural variants (SVs) resulting in copy number changes and balan...

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Literature Corpus work: 70bb082f-c273-57a7-a1fe-a0c845f07a3a
DOI: 10.20944/preprints202401.2182.v1

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