title: Array-Based Comparative Genomic Hybridization (aCGH).
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.
authors.affiliation: The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, 06032, USA. chengsheng.zhang@jax.org.
authors.forename: Chengsheng
authors.initials: C
authors.lastname: Zhang
authors.affiliation: The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, 06032, USA.
authors.forename: Eliza
authors.initials: E
authors.lastname: Cerveira
authors.affiliation: The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, 06032, USA.
authors.forename: Mallory
authors.initials: M
authors.lastname: Romanovitch
authors.affiliation: The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, 06032, USA.
authors.forename: Qihui
authors.initials: Q
authors.lastname: Zhu
mesh_terms: D055028:Comparative Genomic Hybridization / Q000379:methods*; D019295:Computational Biology / Q000379:methods; D056915:DNA Copy Number Variations; D015894:Genome, Human; D023281:Genomics / Q000379:methods; D006801:Humans; D019656:Loss of Heterozygosity; D020641:Polymorphism, Single Nucleotide; D024182:Uniparental Disomy
keywords: Array-based comparative genomic hybridization (aCGH); Copy number variation (CNV); Loss of heterozygosity (LOH); Microarray; Single nucleotide polymorphism (SNP); Uniparental disomy (UPD)