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Author

G. Douglas

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Review Open access Sep 2026

Copy Number Variant Detection by Exome/Genome Sequencing Versus Chromosomal Microarray: A Comparative Study of Over 9,000 Clinical Cases.

PURPOSE Copy number variants (CNVs) are implicated in many health conditions. Chromosomal microarray (CMA) has traditionally been the first-tier test for CNV detection. However, exome and genome sequencing (ES/GS) can identify CNVs alongside other variant types. This study compared CNV detection using CMA versus ES/GS...

Sarah R. Poll, F. Facio, K. McWalter et al. · 0 citations

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