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DNA Microarrays

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...

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Updated: Sep 10, 2025

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

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

Published on: February 21, 2015

Customized Chromosomal Microarrays for Neurodevelopmental Disorders.

Martina Rincic¹, Lukrecija Brecevic¹, Thomas Liehr²

¹School of Medicine, Croatian Institute for Brain Research, University of Zagreb, Salata 12, 10000 Zagreb, Croatia.

|August 28, 2025

Summary

This summary is machine-generated.

A custom microarray improved diagnosis of neurodevelopmental disorders (NDDs) by identifying copy number variants (CNVs). Network analysis prioritized novel candidate genes, revealing glial and immune pathway involvement in NDDs.

Keywords:

12q24.32-q24.33 15q13.2 21q22.2 6q27 ASD CNV NDDs custom CMA protein-protein interaction networks

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DNA Microarrays: Sample Quality Control, Array Hybridization and Scanning

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DNA Microarrays: Sample Quality Control, Array Hybridization and Scanning

DNA Microarrays: Sample Quality Control, Array Hybridization and Scanning

Published on: March 15, 2011

Area of Science:

Genetics
Neuroscience
Bioinformatics

Background:

Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), are genetically complex.
Structural genomic variations like copy number variants (CNVs) are implicated in NDDs.
Current diagnostic methods struggle to interpret the clinical significance of these variants.

Purpose of the Study:

To enhance diagnostic yield for NDDs using a custom gene-oriented chromosomal microarray (CMA).
To prioritize candidate genes for NDDs through systems biology approaches.
To identify novel genetic factors contributing to neurodevelopmental pathologies.

Main Methods:

Developed a custom CMA targeting 6026 neurodevelopment genes.
Analyzed 39 patients with unexplained developmental delay, intellectual disability, or ASD.
Employed systems biology, including network analysis and functional module identification.

Main Results:

Identified pathogenic or likely pathogenic CNVs in 31% of cases.
Network analysis highlighted key candidate genes (e.g., NPEPPS, PSMG1, DOCK8, SLC15A4).
Discovered novel CNV regions linked to neurodevelopmental phenotypes, with enriched glial and astrocytic network involvement.

Conclusions:

Custom CMA improves detection and prioritization of clinically relevant CNVs in NDDs.
Biological network integration aids in identifying novel candidate genes.
The study underscores the role of glial and immune pathways in neurodevelopmental disorders and identifies new research targets.