Characterization of autosomal copy-number variation in African Americans: The HyperGEN Study

Nathan E. Wineinger, Nicholas M. Pajewski, Richard E. Kennedy, Mary K. Wojczynski, Laura K. Vaughan, Steven C. Hunt, C. Charles Gu, Dabeeru C. Rao, Rachel Lorier, Ulrich Broeckel, Donna K. Arnett, Hemant K. Tiwari

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


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.

Original languageEnglish
Pages (from-to)1271-1275
Number of pages5
JournalEuropean Journal of Human Genetics
Issue number12
StatePublished - Dec 2011


  • !DNA copy-number variation; African American; calling algorithm; Birdsuite; PennCNV; HyperGEN


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