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PMID: 21854229 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Human copy number variation and complex genetic disease.

Annual review of genetics ·Vol. 45 ·2011-00-00 ·Pages 203-26

Girirajan S, Campbell CD, Eichler EE

Abstract

Copy number variants (CNVs) play an important role in human disease and population diversity. Advancements in technology have allowed for the analysis of CNVs in thousands of individuals with disease in addition to thousands of controls. These studies have identified rare CNVs associated with neuropsychiatric diseases such as autism, schizophrenia, and intellectual disability. In addition, copy number polymorphisms (CNPs) are present at higher frequencies in the population, show high diversity in copy number, sequence, and structure, and have been associated with multiple phenotypes, primarily related to immune or environmental response. However, the landscape of copy number variation still remains largely unexplored, especially for smaller CNVs and those embedded within complex regions of the human genome. An integrated approach including characterization of single nucleotide variants and CNVs in a large number of individuals with disease and normal genomes holds the promise of thoroughly elucidating the genetic basis of human disease and diversity.

MeSH Terms
Autistic Disorder/genetics DNA Copy Number Variations Genetic Diseases, Inborn/genetics Genetic Testing/methods Genome, Human Humans Intellectual Disability/genetics Linkage Disequilibrium Phenotype Polymorphism, Single Nucleotide Schizophrenia/genetics
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Girirajan Santhosh
Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA. [email protected]
Campbell Catarina D
Eichler Evan E
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Article Info
Journal
Annual review of genetics
Abbr.
Annu Rev Genet
ISSN
1545-2948
DOI
10.1146/annurev-genet-102209-163544
Email
[email protected]
Published
2011-00-00
Epub
2011-00-19
Pages
203-26
Language
English
Region
United States
NLM ID
0117605
PMCID
PMC6662611
Subset
IM
Grants
NHGRI NIH HHS · F32HG006070 · United States
NICHD NIH HHS · R01 HD065285 · United States
NICHD NIH HHS · HD065285 · United States
Howard Hughes Medical Institute · United States
NHGRI NIH HHS · F32 HG006070 · United States
External Links
PubMed source DOI: 10.1146/annurev-genet-102209-163544 PMC Full Text View journal details
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