Human copy number variation and complex genetic disease
S Girirajan, CD Campbell…�- Annual review of genetics, 2011 - annualreviews.org
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�…
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�…