Abstract:
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.
journal_name
Transfusionjournal_title
Transfusionauthors
Fox K,Johnsen JM,Coe BP,Frazar CD,Reiner AP,NHLBI Exome Sequencing Project, Minority Health-GRID Network.,Eichler EE,Nickerson DAdoi
10.1111/trf.13797subject
Has Abstractpub_date
2016-11-01 00:00:00pages
2744-2749issue
11eissn
0041-1132issn
1537-2995journal_volume
56pub_type
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