Article
Population analysis of large copy number variants and hotspots of human genetic disease.
American journal of human genetics - 1 Feb 2009
Itsara Andy, Cooper Gregory M, Baker Carl, Girirajan Santhosh, Li Jun, Absher Devin, Krauss Ronald M, Myers Richard M, Ridker Paul M, Chasman Daniel I, Mefford Heather, Ying Phyllis, Nickerson Deborah A, Eichler Evan E
Abstract excerpt
Copy number variants (CNVs) contribute to human genetic and phenotypic diversity. However, the distribution of larger CNVs in the general population remains largely unexplored. We identify large variants in approximately 2500 individuals by using Illumina SNP data, with an emphasis on "hotspots" prone to recurrent mutations. We find variants larger than 500 kb in 5%-10% of individuals and variants greater than 1...
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