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Topic · Hematology · Medicine

Blood groups and transfusion

OpenAlex topic; a paper is listed when OpenAlex scores it at least 0.5 for this topic.

9 papers

Characterization of Blood Group Variants in an Omani Population by Comparison of Whole Genome Sequencing and Serology

Paige E. Haffener, Arwa Z. Al‐Riyami, Shoaib Al‐Zadjali, Mohammed Al‐Rawahi, Saif Al Hosni, Ali Al‐Marhoobi, Ammar Al Sheriyani, Ellen Miranda Leffler

This study uses whole genome sequencing and serology to characterize blood group variants in Omanis, identifying population-specific variants and highlighting the impact of population history on blood group variation.

Transfusion · Sep 7, 2025Peer-reviewedGenomics

A machine-learning method for biobank-scale genetic prediction of blood group antigens

Kati Hyvärinen, Katri Haimila, Camous Moslemi, Blood Service Biobank, Martin L. Olsson, Sisse Rye Ostrowski, Ole Birger Pedersen, Christian Erikstrup, Jukka Partanen, Jarmo Ritari

The paper develops a machine learning method to predict blood group antigens and HPA-1 from genotyping data, achieving high accuracy in multiple cohorts.

PLoS Computational Biology · Mar 21, 2024Peer-reviewedGenetic & Genomic Medicine

Resolving genotype-phenotype discrepancies of the Kidd blood group using nanopore sequencing

Morgan Gueuning, Gian Andri Thun, Nadine Trost, Linda H. Schneider, Sonja Sigurdardottir, Charlotte Engström, Naemi Larbes, Yvonne Merki, Beat M. Frey, Christoph Gassner, S Meyer, Maja P. Mattle‐Greminger

This study uses nanopore sequencing to resolve genotype-phenotype discrepancies in the Kidd blood group system by detecting structural variants and novel alleles.

Biomedicines · Jan 19, 2024Peer-reviewedGenetics

Novel regulatory variant in ABO intronic RUNX1 binding site inducing A3 phenotype

Gian Andri Thun, Morgan Gueuning, Sonja Sigurdardottir, Eduardo Meyer, Elise Gourri, Linda H. Schneider, Yvonne Merki, Nadine Trost, Kathrin Neuenschwander, Charlotte Engström, Beat M. Frey, Stefan Meyer, Maja P. Mattle‐Greminger

The paper identifies a novel regulatory variant in the ABO gene's RUNX1 binding site associated with an A3 blood phenotype using long-read sequencing.

Vox Sanguinis · Jan 16, 2024Peer-reviewedGenetics

Genetic landscape of Human neutrophil antigen variants in India from population-scale genomes

Mercy Rophina, Rahul C. Bhoyar, Mohamed Imran, Vigneshwar Senthivel, Mohit Kumar Divakar, Anushree Mishra, Bani Jolly, Sridhar Sivasubbu, Vinod Scaria

This study reports HNA allele and genotype frequencies in the Indian population using whole genome sequencing, finding significant differences in HNA5 variant prevalence compared to other global populations.

HLA · Dec 11, 2022Peer-reviewedGenomics