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

Publication Type:

Journal Article


Transfusion (2016)


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.