Human copy number variation and complex genetic disease

Santhosh Girirajan, Catarina D. Campbell, Evan E. Eichler

Research output: Contribution to journalArticlepeer-review

227 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)203-226
Number of pages24
JournalAnnual review of genetics
Volume45
DOIs
StatePublished - 2011

All Science Journal Classification (ASJC) codes

  • Genetics

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