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Chromosomal Microarray Analysis in the Era of Optical Genome Mapping: Clinical Implications in Detecting Copy-Neutral Events

2026-05-08

Abstract excerpt

<h4>Background: </h4> /Objectives: Chromosomal microarray analysis (CMA) is an essential tool in modern cytogenetics for detecting copy number alterations and copy-neutral loss of heterozygosity (CN-LOH). As optical genome mapping (OGM) emerges as a potential replacement for traditional cytogenetic methods, the extent to which CMA remains necessary in routine diagnostic workflows remains to be elucidated. <h4>Meth...

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Literature Corpus work: 9b809d24-c401-5e3d-946b-28f1409ab47a
DOI: 10.20944/preprints202605.0494.v1

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