Targeted exome sequencing defines novel and rare variants in complex blood group serology cases for a red blood cell reference laboratory setting.
Elizna M SchoemanEileen V RoulisYew-Wah LiewJacqueline R MartinTanya PowleyBrett WilsonGlenda M MillardEunike C McGowanGenghis H LopezHelen O'BrienJennifer A CondonRobert L P FlowerCatherine A HylandPublished in: Transfusion (2017)
Targeted exome sequencing resolved complex serology problems and defined both novel blood group alleles (CD55:c.203G>A, ABCB6:c.1118_1124delCGGATCG, ABCB6:c.1656-1G>A, and RHD:c.452G>A) and rare variants on blood group alleles associated with altered phenotypes. This study illustrates the utility of exome sequencing, in conjunction with serology, as an alternative approach to resolve complex cases.