Next generation sequencing and blood group genotyping: a narrative review

Orzińska, Agnieszka

doi:10.21037/aob-21-39

Cited by 3 publications

(1 citation statement)

References 55 publications

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“…Currently, the genotypes of many BGAs can be determined simultaneously through next-generation sequencing (NGS). However, NGS remains expensive, labor-intensive, and time-consuming and requires standardization and validation before being routinely used for BGA genotyping in clinical laboratories [ 30 ]. In contrast, TaqMan SNP-genotyping assays are relatively cost-effective, simple, and fast; have been extensively validated; and have been widely applied in various routine tests in clinical laboratories.…”

Section: Discussionmentioning

confidence: 99%

Evaluating the TaqMan Jr^a-Genotyping Method for Rapidly Predicting the Presence of Anti-Jr^a Antibodies

Koo,

Kwon,

Suh

et al. 2024

Ann Lab Med

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Background: The Jr a antigen is a high-prevalence red blood cell (RBC) antigen. Reports on cases of fatal hemolytic disease of the fetus and newborn and acute hemolytic transfusion reactions suggest that antibodies against Jr a (anti-Jr a ) have potential clinical significance. Identifying anti-Jr a is challenging owing to a lack of commercially available antisera. We developed an alternative approach to rapidly predict the presence of anti-Jr a using the Taq-Man single-nucleotide polymorphism (SNP)-genotyping method.Methods: Residual peripheral blood samples from 10 patients suspected of having the anti-Jr a were collected. Two samples with confirmed Jr(a-) RBCs and anti-Jr a were used to validate the TaqMan genotyping assay by comparing the genotyping results with direct sequencing. The accuracy of the assay in predicting the presence of anti-Jr a was verified through crossmatching with in-house Jr(a-) O+ RBCs.Results: The TaqMan-genotyping method was validated with two Jr(a-) RBC-and anti-Jr aconfirmed samples that showed concordant Jr a genotyping and direct sequencing results. Jr a genotyping for the remaining samples and crossmatching the serum samples with inhouse Jr(a-) O+ RBCs showed consistent results. Conclusions:We validated a rapid, simple, accurate, and cost-effective method for predicting the presence of anti-Jr a using a TaqMan-based SNP-genotyping assay. Implementing this method in routine practice in clinical laboratories will assist in solving difficult problems regarding alloantibodies to high-prevalence RBC antigens and ultimately aid in providing safe and timely transfusions and proper patient care.

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Section: Discussionmentioning

confidence: 99%

Evaluating the TaqMan Jr^a-Genotyping Method for Rapidly Predicting the Presence of Anti-Jr^a Antibodies

Koo,

Kwon,

Suh

et al. 2024

Ann Lab Med

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Next Generation Sequencing of Red Blood Cell Antigens in Transfusion Medicine: Systematic Review and Meta-Analysis

Matosinho,

Silva,

Martins

et al. 2024

Transfusion Medicine Reviews

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Long-Read Sequencing in Blood Group Genetics

Thun,

Gueuning,

Mattle-Greminger

2023

Transfus Med Hemother

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Background: The key advantages of latest third-generation long-read sequencing (TGS) technologies include the ability to resolve long haplotypes and to characterize genomic regions that are challenging to analyze with short-read sequencing. Recent advancements in TGS technologies have significantly improved accuracy, a crucial requirement for the transition from research to diagnostic applications. Summary: In the field of immunohematology, the adoption of TGS is still in its early stages and published applications are scarce. An undeniable utility of TGS in blood group genomics is the ability to resolve ambiguous genotype-phenotype blood group results. In particular, hybrid genes and other large structural variants, as commonly found in the RHD/CE and MNS blood group systems, cause such discrepant results that can hardly be resolved by conventional methods. Long-read sequencing also greatly aids to generate high-standard reference alleles, establish haplotype sequence databases, or could even serve for high-resolution genotyping of all blood groups in parallel. Additionally, TGS holds the potential to close important knowledge gaps in blood group transcriptomics and epigenetics. Key Messages: The aims of this review were to examine the prospects of TGS technologies within the field of immunohematology and to highlight practical applications. Furthermore, we present a comprehensive overview of the existing and emerging wet-laboratory strategies for data generation, as well as a summary on bioinformatic data analysis methods. Finally, we provide an outlook on anticipated advancements in the near future.

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Next generation sequencing and blood group genotyping: a narrative review

Cited by 3 publications

References 55 publications

Evaluating the TaqMan Jr^a-Genotyping Method for Rapidly Predicting the Presence of Anti-Jr^a Antibodies

Evaluating the TaqMan Jr^a-Genotyping Method for Rapidly Predicting the Presence of Anti-Jr^a Antibodies

Next Generation Sequencing of Red Blood Cell Antigens in Transfusion Medicine: Systematic Review and Meta-Analysis

Long-Read Sequencing in Blood Group Genetics

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Next generation sequencing and blood group genotyping: a narrative review

Cited by 3 publications

References 55 publications

Evaluating the TaqMan Jra-Genotyping Method for Rapidly Predicting the Presence of Anti-Jra Antibodies

Evaluating the TaqMan Jra-Genotyping Method for Rapidly Predicting the Presence of Anti-Jra Antibodies

Next Generation Sequencing of Red Blood Cell Antigens in Transfusion Medicine: Systematic Review and Meta-Analysis

Long-Read Sequencing in Blood Group Genetics

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Product

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Evaluating the TaqMan Jr^a-Genotyping Method for Rapidly Predicting the Presence of Anti-Jr^a Antibodies

Evaluating the TaqMan Jr^a-Genotyping Method for Rapidly Predicting the Presence of Anti-Jr^a Antibodies