ArticleBMC genomics2016
ABO allele-level frequency estimation based on population-scale genotyping by next generation sequencing.
Article in BMC genomics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- Robust cis-by-trans epistasis in the human plasma proteome highlights an ABO-centered interaction network.American journal of human genetics · 2026Article
- Advances inFrontiers in immunology · 2026Article
- 16S rRNA Gene Amplicon Sequencing and Functional Profiling of Rhizosphere Bacteria in Date Palms Reveal Diverse Potential Plant Growth-Promoting Traits.International journal of microbiology · 2026Article
- Utility ofAnnals of laboratory medicine · 2025Article
- Characterisation of the ABO Blood Group Phenotypes Using Third-Generation Sequencing.International journal of molecular sciences · 2025Article
- Long-Read Sequencing in Blood Group Genetics.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2023Review
- Haplotype sequence collection of ABO blood group alleles by long-read sequencing reveals putative A1-diagnostic variants.Blood advances · 2023Article
- High population frequencies ofFrontiers in immunology · 2023Article
- Analysis of the Genomic Sequence ofFrontiers in immunology · 2022Article
- Cataloguing experimentally confirmed 80.7 kb-long ACKR1 haplotypes from the 1000 Genomes Project database.BMC bioinformatics · 2021Article
- ABO subgroup incompatibility with severe hemolysis after consecutive allogeneic stem cell transplantations.EJHaem · 2021Article
- DNA sequence analysis and Jk blood group genotype-phenotype assessment.Annals of translational medicine · 2020Article
- Immunogenetics in stem cell donor registry work: The DKMS example (Part 2).International journal of immunogenetics · 2020Review
- Defining Blood Group Gene Reference Alleles by Long-Read Sequencing: Proof of Concept in theTransfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2020Article
- Estimation of German KIR Allele Group Haplotype Frequencies.Frontiers in immunology · 2020Article
- High-ThroughputFrontiers in immunology · 2020Article
- Bioinformatics Strategies, Challenges, and Opportunities for Next Generation Sequencing-Based HLA Genotyping.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2019Review
- Very low error rates of NGS-based HLA typing at stem cell donor recruitment question the need for a standard confirmatory typing step before donor work-up.Bone marrow transplantation · 2019Article
- Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study.The Lancet. Haematology · 2018Article
- Allele-LevelFrontiers in immunology · 2018Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe characterization of the ABO blood group status is vital for blood transfusion and solid organ transplantation. Several methods for the molecular characterization of the ABO gene, which encodes the alleles that give rise to the different ABO blood groups, have been described. However, the application of those methods has so far been restricted to selected samples and not been applied to population-scale analysis.
resultsWe describe a cost-effective method for high-throughput genotyping of the ABO system by next generation sequencing. Sample specific barcodes and sequencing adaptors are introduced during PCR, rendering the products suitable for direct sequencing on Illumina MiSeq or HiSeq instruments. Complete sequence coverage of exons 6 and 7 enables molecular discrimination of the ABO subgroups and many alleles. The workflow was applied to ABO genotype more than a million samples. We report the allele group frequencies calculated on a subset of more than 110,000 sampled individuals of German origin. Further we discuss the potential of the workflow for high resolution genotyping taking the observed allele group frequencies into account. Finally, sequence analysis revealed 287 distinct so far not described alleles of which the most abundant one was identified in 174 samples.
conclusionsThe described workflow delivers high resolution ABO genotyping at low cost enabling population-scale molecular ABO characterization.
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