Copy number variants in the population: Unselected does not mean unaffected
Year: 2016
Type: article
Abstract: Copy number variants (CNVs; deletions or duplications of a stretch of chromosomal DNA) first came to attention as an important source of genomic variation in 2004 (1, 2).Since that time, numerous studies have been carried out to either 1) catalog CNVs that are found in normal, healthy individuals or 2) identify CNVs that are unique to or enriched in individuals with disease.The latter category of studies highlight CNVs that cause or increase risk of disease when present in an individual's genome.Studies of healthy individuals provide a basis for comparison when studying disease populations.Combined, these studies help delineate what types of CNVs are most likely to be pathogenic (large, de novo, gene-rich) and which
Author: Heather C. Mefford
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2323199870