title: Analysis of exome sequencing data sets reveals structural variation in the coding region of ABO in individuals of African ancestry.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
  
  
  
  Our study demonstrates the power that analyses of large-scale sequencing data, particularly data sets containing underrepresented populations, can provide in identifying novel SVs.
authors: Department of Genome Sciences.
authors: Keolu
authors: K
authors: Fox
authors: Hematology Division, University of Washington, School of Medicine.|Bloodworks Northwest.
authors: Jill M
authors: JM
authors: Johnsen
authors: Department of Genome Sciences.
authors: Bradley P
authors: BP
authors: Coe
authors: Department of Genome Sciences.
authors: Chris D
authors: CD
authors: Frazar
authors: Public Health Sciences Division, Fred Hutchinson Cancer Research Center.|Department of Epidemiology, University of Washington, School of Public Health.
authors: Alexander P
authors: AP
authors: Reiner
authors: Department of Genome Sciences.|Howard Hughes Medical Institute, Seattle, Washington.
authors: Evan E
authors: EE
authors: Eichler
authors: Department of Genome Sciences.
authors: Deborah A
authors: DA
authors: Nickerson
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D044383:Black People / Q000235:genetics*; D059472:Exome / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D019081:O Antigens / Q000235:genetics; D016366:Open Reading Frames / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion
chemical_list: D000017:ABO Blood-Group System; D019081:O Antigens