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Related Experiment Video

Updated: May 27, 2026

Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization

Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization

Published on: August 5, 2008

Interpretation of array comparative genome hybridization data: a major challenge.

A C J Gijsbers¹, J Schoumans, C A L Ruivenkamp

¹Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Cytogenetic and Genome Research

|November 17, 2011

Summary

High-resolution array comparative genome hybridization (array CGH) detects copy number variants (CNVs) in both patients and healthy individuals. This review presents a clinical workflow for interpreting CNVs in routine diagnostics.

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Last Updated: May 27, 2026

Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization

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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

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Published on: February 21, 2015

An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants

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Published on: November 8, 2017

Area of Science:

Genetics
Genomic Medicine
Clinical Diagnostics

Background:

High-resolution array comparative genome hybridization (array CGH) identifies numerous copy number variants (CNVs).
CNVs are found in patients with developmental delay and congenital anomalies, but also in healthy individuals.
The prevalence of CNVs in the general population complicates the interpretation of their clinical significance.

Purpose of the Study:

To present a general clinical workflow for the interpretation of CNVs.
To aid in routine diagnostics for patients with suspected genetic disorders.
To address the challenge of interpreting CNV clinical significance.

Main Methods:

Review of clinical experience in interpreting CNVs.
Development of a diagnostic workflow for CNV analysis.
Application of array CGH technology.

Main Results:

Array CGH is a powerful tool for detecting CNVs.
A significant number of CNVs exist in the healthy population.
A structured approach is necessary for accurate CNV interpretation.

Conclusions:

Interpreting the clinical significance of CNVs requires a systematic approach.
The presented workflow can assist in routine diagnostic settings.
Distinguishing pathogenic CNVs from benign variants is crucial for patient care.