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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
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Copy Number Variant Detection by Exome/Genome Sequencing Versus Chromosomal Microarray: A Comparative Study of Over

Sarah R Poll1, Flavia M Facio1, Kirsty McWalter1

  • 1GeneDx LLC, Gaithersburg, MD, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|September 21, 2026
PubMed
Abstract

Keywords:
Copy number variantchromosomal microarrayclinical genomicsdiagnostic yieldgenetic testing

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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