High-throughput genotyping tools for red blood cell antigens

Purpose of review Red blood cell (RBC) antigens arise from genetic variations. RBC genotyping has been increasingly used to assist serological typing, solve serological discrepancies, guide antigen matching, and tackle RBC antigens with complex genetics, such as Rh blood group. This review will discuss common applications of RBC genotyping in patient care, genotyping methods, and computational algorithms for automated and high-throughput RBC genotyping. Recent findings Single-nucleotide polymorphisms (SNPs) are the most common polymorphisms of genes encoding RBC antigens. High-throughput platforms focusing on identifying SNPs and small insertions and deletions (indels), such as SNP arrays and high-density SNP arrays, have been developed and/or implemented for RBC genotyping in clinical settings. Whereas SNP arrays target common variants, DNA sequencing provides more comprehensive information on RBC antigens and can identify rare and new SNPs/indels and various structural variations. Computational algorithms that address the tremendous quantities of data and bioinformatics challenges generated by DNA sequencing have been developed, enabling automated and high-throughput genotyping. Summary With the advances in microarray and sequencing technologies and bioinformatics, RBC genotyping may become a new gold standard for RBC antigen identification and can provide critical insights for research on RBC antigens.