ArticleTransfusion2019
Development and evaluation of a transfusion medicine genome wide genotyping array.
Article in Transfusion, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
34 citing papers in PubMed, 57 citations in OpenAlex.
- Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care.International journal of laboratory hematology · 2026Review
- Genome-wide association of pica within a cohort of volunteer blood donors potentially implicates the gene encoding neuropeptide VF.Transfusion · 2026Article
- Proof-of-principle: nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid alleles.Blood advances · 2026Article
- Donor genetics and storage conditions influence mitochondrial DNA and extracellular vesicle levels in RBC units.JCI insight · 2025Article
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- Increased exercise tolerance in humanized G6PD-deficient mice.Blood advances · 2025Article
- Clinical, laboratory and genetic factors associated with smoking in a Brazilian Sickle Cell Disease (SCD) cohort.PloS one · 2025Article
- Molecular advances in transfusion medicine: a narrative review.Frontiers in medicine · 2025Review
- Genetic determinants of plasma testosterone in male blood donors are associated with altered red blood cell characteristics and survival in cold storage and after transfusion.Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis · 2024Article
- Biological and genetic determinants of glycolysis: Phosphofructokinase isoforms boost energy status of stored red blood cells and transfusion outcomes.Cell metabolism · 2024Article
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- Red Blood Cell Storage: From Genome to Exposome Towards Personalized Transfusion Medicine.Transfusion medicine reviews · 2023Review
- Red Blood Cell Metabolism In Vivo and In Vitro.Metabolites · 2023Review
- Long-Read Sequencing in Blood Group Genetics.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2023Review
- Red Blood Cell Omics and Machine Learning in Transfusion Medicine: Singularity Is Near.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2023Review
- Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.Blood advances · 2022Article
- Observational
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Authors and funding
16 authors at 11 institutions in 3 countries.
Funding
Abstract
backgroundMany aspects of transfusion medicine are affected by genetics. Current single-nucleotide polymorphism (SNP) arrays are limited in the number of targets that can be interrogated and cannot detect all variation of interest. We designed a transfusion medicine array (TM-Array) for study of both common and rare transfusion-relevant variations in genetically diverse donor and recipient populations. STUDY DESIGN AND
methodsThe array was designed by conducting extensive bioinformatics mining and consulting experts to identify genes and genetic variation related to a wide range of transfusion medicine clinical relevant and research-related topics. Copy number polymorphisms were added in the alpha globin, beta globin, and Rh gene clusters.
resultsThe final array contains approximately 879,000 SNP and copy number polymorphism markers. Over 99% of SNPs were called reliably. Technical replication showed the array to be robust and reproducible, with an error rate less than 0.03%. The array also had a very low Mendelian error rate (average parent-child trio accuracy of 0.9997). Blood group results were in concordance with serology testing results, and the array accurately identifies rare variants (minor allele frequency of 0.5%). The array achieved high genome-wide imputation coverage for African-American (97.5%), Hispanic (96.1%), East Asian (94.6%), and white (96.1%) genomes at a minor allele frequency of 5%.
conclusionsA custom array for transfusion medicine research has been designed and evaluated. It gives wide coverage and accurate identification of rare SNPs in diverse populations. The TM-Array will be useful for future genetic studies in the diverse fields of transfusion medicine research.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.