Article

Multi-site Technical Performance and Concordance of Optical Genome Mapping: Constitutional Postnatal Study for SV, CNV, and Repeat Array Analysis

2021-12-30

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> The standard of care (SOC) cytogenetic testing methods, such as chromosomal microarray (CMA) and Fragile-X syndrome (FXS) testing, have been employed for the detection of copy number variations (CNVs), and tandem repeat expansions/contractions that contribute towards a sizable portion of genetic abnormalities in constitutional disorders. However, CMA is unable to detect balanc...

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Literature Corpus work: 0bc64a78-3529-5749-95a5-10f41d525d5e
DOI: 10.1101/2021.12.27.21268432

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