Characterisation of the ABO Blood Group Phenotypes Using Third-Generation Sequencing.

ABSTRACT: Third-generation sequencing (TGS), also known as long-read sequencing, has become a promising tool in clinical and research laboratories because it delivers high-resolution results with unmatched throughput. Specialised immunohematology laboratories currently employ sequencing-based methods to characterise rare ABO blood group phenotypes that cannot be identified through serology and genotyping methods. However, routine clinical application of these methods remains elusive due to the absence of validated laboratory protocols and bioinformatics tools. In this study, we have developed and validated a TGS-based workflow for comprehensive determination of the clinically relevant ABO phenotypes from DNA isolated from buccal swabs or whole blood. The region spanning exons 2 to 7 of the ABO

SUBMITTER: Mobegi FM 

PROVIDER: S-EPMC12192586 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature