Array-Based Comparative Genomic Hybridization (aCGH)

Chengsheng Zhang; Eliza Cerveira; Mallory Romanovitch; Qihui Zhu

doi:10.1007/978-1-4939-6703-2_15

Array-Based Comparative Genomic Hybridization (aCGH)

Methods Mol Biol. 2017:1541:167-179. doi: 10.1007/978-1-4939-6703-2_15.

Authors

Chengsheng Zhang¹, Eliza Cerveira², Mallory Romanovitch², Qihui Zhu²

Affiliations

¹ The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, 06032, USA. chengsheng.zhang@jax.org.
² The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, 06032, USA.

PMID: 27910023
DOI: 10.1007/978-1-4939-6703-2_15

Abstract

Copy number variations (CNVs) in the genomes have been suggested to play important roles in human evolution, genetic diversity, and disease susceptibility. A number of assays have been developed for the detection of CNVs, including fluorescent in situ hybridization (FISH), array-based comparative genomic hybridization (aCGH), PCR-based assays, and next-generation sequencing (NGS). In this chapter, we describe a microarray method that has been used for the detection of genome-wide CNVs, loss of heterozygosity (LOH), and uniparental disomy (UPD) associated with constitutional and neoplastic disorders.

Keywords: Array-based comparative genomic hybridization (aCGH); Copy number variation (CNV); Loss of heterozygosity (LOH); Microarray; Single nucleotide polymorphism (SNP); Uniparental disomy (UPD).

MeSH terms

Comparative Genomic Hybridization / methods*
Computational Biology / methods
DNA Copy Number Variations
Genome, Human
Genomics / methods
Humans
Loss of Heterozygosity
Polymorphism, Single Nucleotide
Uniparental Disomy