Characterization of autosomal copy-number variation in African Americans: the HyperGEN Study. Eur J Hum Genet 2011 Dec;19(12):1271-5
Date
06/16/2011Pubmed ID
21673747Pubmed Central ID
PMC3230358DOI
10.1038/ejhg.2011.115Scopus ID
2-s2.0-81455131744 (requires institutional sign-in at Scopus site) 5 CitationsAbstract
African Americans are a genetically diverse population with a high burden of many, common heritable diseases. However, our understanding of genetic variation in African Americans is substandard because of a lack of published population-based genetic studies. We report the distribution of copy-number variation (CNV) in African Americans collected as part of the Hypertension Genetic Epidemiology Network (HyperGEN) using the Affymetrix 6.0 array and the CNV calling algorithms Birdsuite and PennCNV. We present population estimates of CNV from 446 unrelated African-American subjects randomly selected from the 451 families collected within HyperGEN. Although the majority of CNVs discovered were individually rare, we found the frequency of CNVs to be collectively high. We identified a total of 11 070 CNVs greater than 10 kb passing quality control criteria that were called by both algorithms - leading to an average of 24.8 CNVs per person covering 2214 kb (median). We identified 1541 unique copy-number variable regions, 309 of which did not overlap with the Database of Genomic Variants. These results provide further insight into the distribution of CNV in African Americans.
Author List
Wineinger NE, Pajewski NM, Kennedy RE, Wojczynski MK, Vaughan LK, Hunt SC, Gu CC, Rao DC, Lorier R, Broeckel U, Arnett DK, Tiwari HKAuthor
Ulrich Broeckel MD Chief, Center Associate Director, Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
DNA Copy Number VariationsGenetics, Population
Genome-Wide Association Study
Humans
Models, Genetic
Models, Statistical
