Analysis of exome sequencing data sets reveals structural variation in the coding region of ABO in individuals of African ancestry.

BACKGROUND ABO is a blood group system of high clinical significance due to the prevalence of ABO variation that can cause major, potentially life-threatening, transfusion reactions. STUDY DESIGN AND METHODS Using multiple large-scale next-generation sequence data sets, we demonstrate the application of read-depth approaches to discover previously unsuspected structural variation (SV) in the ABO gene in individuals of African ancestry. RESULTS Our analysis of SV in the ABO gene across 6432 exomes reveals a partial deletion in the ABO gene in 32 individuals of African ancestry that predicts a novel O allele. CONCLUSION Our study demonstrates the power that analyses of large-scale sequencing data, particularly data sets containing underrepresented populations, can provide in identifying novel SVs.