Investigation of blood group genotype prevalence in Korean population using large genomic databases.

ABSTRACT: Blood group antigens, which are prominently expressed in red blood cells, are important in transfusion medicine. The advent of high-throughput genome sequencing technology has facilitated the prediction of blood group antigen phenotypes based on genomic data. In this study, we analyzed data from a large Korean population to provide an updated prevalence of blood group antigen phenotypes, including rare ones. A robust dataset comprising 72,291 single nucleotide polymorphism arrays, 5318 whole-exome sequences, and 4793 whole-genome sequences was extracted from the Korean Genome and Epidemiology Study, Genome Aggregation Database, and Korean Variant Archive and then analyzed. The phenotype prevalence of clinically significant blood group antigens, including MNSs, RHCE, Kidd, Duffy, and Diego,

SUBMITTER: Bae CO 

PROVIDER: S-EPMC10504236 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature