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.
|Number of pages
|European Journal of Human Genetics
|Published - Dec 2011
Bibliographical noteFunding Information:
This study was supported in part by the Marie and Emmett Carmichael Scholarship and by NIH grants R01HL055673, P01AR049084, T32HL079888, and T32HL072757. The opinions expressed herein are those of the authors and not necessarily those of the NIH or any organization with which the authors are affiliated.
- !DNA copy-number variation; African American; calling algorithm; Birdsuite; PennCNV; HyperGEN
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