Article
Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2019
Wheeler Marsha M, Lannert Kerry W, Huston Haley, Fletcher Shelley N, Harris Samantha, Teramura Gayle, Maki Helena J, Frazar Chris, Underwood Jason G, Shaffer Tristan, Correa Adolfo, Delaney Meghan, Reiner Alex P, Wilson James G, Nickerson Deborah A, Johnsen Jill M
Abstract excerpt
PURPOSE: Rh antigens can provoke severe alloimmune reactions, particularly in high-risk transfusion contexts, such as sickle cell disease. Rh antigens are encoded by the paralogs, RHD and RHCE, located in one of the most complex genetic loci. Our goal was to characterize RH genetic variation in multi-ethnic cohorts, with the focus on detecting RH structural variation (SV). METHODS: We customized analytical...
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