Comparative genomic hybridization

Daniel Pinkel, Donna Albertson

Research output: Contribution to journalArticle

Abstract

Altering DNA copy number is one of the many ways that gene expression and function may be modified. Some variations are found among normal individuals (14, 35,103), others occur in the course of normal processes in some species (33), and still others participate in causing various disease states. For example, many defects in human development are due to gains and losses of chromosomes and chromosomal segments that occur prior to or shortly after fertilization, whereas DNA dosage alterations that occur in somatic cells are frequent contributors to cancer. Detecting these aberrations, and interpreting them within the context of broader knowledge, facilitates identification of critical genes and pathways involved in biological processes and diseases, and provides clinically relevant information. Over the past several years array comparative genomic hybridization (array CGH) has demonstrated its value for analyzing DNA copy number variations. In this review we discuss the state of the art of array CGH and its applications in medical genetics and cancer, emphasizing general concepts rather than specific results.

Original languageEnglish (US)
Pages (from-to)331-354
Number of pages24
JournalAnnual Review of Genomics and Human Genetics
Volume6
DOIs
StatePublished - 2005

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Comparative Genomic Hybridization
DNA Copy Number Variations
Biological Phenomena
Critical Pathways
DNA
Medical Genetics
Human Development
Fertilization
Neoplasms
Chromosomes
Aberrations
Gene Expression
Gene expression
Genes
Defects

Keywords

  • Array CGH
  • Cancer genetics
  • Clinical genetics
  • Genome profiling
  • Genomic instability

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Genetics(clinical)

Cite this

Comparative genomic hybridization. / Pinkel, Daniel; Albertson, Donna.

In: Annual Review of Genomics and Human Genetics, Vol. 6, 2005, p. 331-354.

Research output: Contribution to journalArticle

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