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PMID: 17597776 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Methods and strategies for analyzing copy number variation using DNA microarrays.

Nature genetics ·Vol. 39 ·No. 7 Suppl ·2007-07-00 ·Pages S16-21

Carter NP

Abstract

The association of DNA copy-number variation (CNV) with specific gene function and human disease has been long known, but the wide scope and prevalence of this form of variation has only recently been fully appreciated. The latest studies using microarray technology have demonstrated that as much as 12% of the human genome and thousands of genes are variable in copy number, and this diversity is likely to be responsible for a significant proportion of normal phenotypic variation. Current challenges involve developing methods not only for detecting and cataloging CNVs in human populations at increasingly higher resolution but also for determining the association of CNVs with biological function, recent human evolution, and common and complex human disease.

MeSH Terms
Chromosomes, Artificial, Bacterial/genetics Chromosomes, Human, Pair 18/genetics Cloning, Molecular DNA, Complementary/genetics Gene Dosage Genetic Variation Genome, Human Genotype Humans Nucleic Acid Hybridization Oligonucleotide Array Sequence Analysis/methods Phenotype Polymerase Chain Reaction Polymorphism, Single Nucleotide
Chemicals
DNA, Complementary
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Carter Nigel P
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK. [email protected]
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Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1061-4036
DOI
10.1038/ng2028
Email
[email protected]
Published
2007-07-00
Pages
S16-21
Language
English
Region
United States
NLM ID
9216904
PMCID
PMC2697494
Subset
IM
Grants
Wellcome Trust · 077008 · United Kingdom
External Links
PubMed source DOI: 10.1038/ng2028 PMC Full Text View journal details
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