Abstract

Blood group genotyping has many advantages over conventional phenotyping for both blood donors and patients, and a number of high-throughput methods have now been developed. However, these are limited by a requirement for existing knowledge of the relevant blood group gene polymorphisms, and rare or novel mutations will not be detected. These mutations could be successfully identified by DNA sequencing of the blood group genes, and such an approach has been made feasible by the introduction of Next Generation Sequencing (NGS) technology. NGS enables many genes from multiple samples to be sequenced in parallel, resulting in sequencing information that could be used to obtain accurate blood group phenotype predictions in both blood donors and patients.

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