ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Full-length haplotype reconstruction of CD36 by long-read sequencing: uncovers a novel structural variant.BMC genomics · 2026Article
- Proof-of-principle: nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid alleles.Blood advances · 2026Article
- Comprehensive genome analysis and variant detection at scale using DRAGEN.Nature biotechnology · 2025Article
- Transitioning a multiethnic donor pool from serologic D-negative to molecularly RHD-negative at a hospital-based blood donor service.Journal of translational medicine · 2025Article
- Genomic characterization of clinically significant blood group variants in Aboriginal Australians.Blood transfusion = Trasfusione del sangue · 2024Article
- Simultaneous high throughput genotyping of 36 blood group systems using NGS based on probe capture technology.Heliyon · 2024Article
- Integrated analyses reveal unexpected complex inversion and recombination in RH genes.Blood advances · 2024Article
- Machine learning to optimize automated RH genotyping using whole-exome sequencing data.Blood advances · 2024Article
- Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms.bioRxiv : the preprint server for biology · 2024Article
- Long-Read Sequencing in Blood Group Genetics.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2023Review
- High-throughput method for the hybridisation-based targeted enrichment of long genomic fragments for PacBio third-generation sequencing.NAR genomics and bioinformatics · 2022Article
- Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion.American journal of human genetics · 2022Article
- Cataloguing experimentally confirmed 80.7 kb-long ACKR1 haplotypes from the 1000 Genomes Project database.BMC bioinformatics · 2021Article
- The Significance ofFrontiers in immunology · 2021Article
- A novel algorithm comprehensively characterizes human RH genes using whole-genome sequencing data.Blood advances · 2020Article
- First Korean Case of Partial DAnnals of laboratory medicine · 2020Article
- How Can Law and Policy Advance Quality in Genomic Analysis and Interpretation for Clinical Care?The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2020Article
- Evaluating the promise of inclusion of African ancestry populations in genomics.NPJ genomic medicine · 2020Review
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17 authors.
Funding
Abstract
purposeRh antigens can provoke severe alloimmune reactions, particularly in high-risk transfusion contexts, such as sickle cell disease. Rh antigens are encoded by the paralogs, RHD and RHCE, located in one of the most complex genetic loci. Our goal was to characterize RH genetic variation in multi-ethnic cohorts, with the focus on detecting RH structural variation (SV).
methodsWe customized analytical methods to estimate paralog-specific copy number from next-generation sequencing (NGS) data. We applied these methods to clinically characterized samples, including four World Health Organization (WHO) genotyping references and 1135 Asian and Native American blood donors. Subsequently, we surveyed 1715 African American samples from the Jackson Heart Study.
resultsMost samples in each dataset exhibited SV. SV detection enabled prediction of the immunogenic RhD and RhC antigens in concordance (>99%) with serological phenotyping. RhC antigen expression was associated with exon 2 hybrid alleles (RHCE*CE-D(2)-CE). Clinically relevant exon 4-7 hybrid alleles (RHD*D-CE(4-7)-D) and exon 9 hybrid alleles (RHCE*CE-D(9)-CE) were prevalent in African Americans.
conclusionThis study shows custom NGS methods can accurately detect RH SV, and that SV is important to inform prediction of relevant RH alleles. Additionally, this study provides the first large NGS survey of RH alleles in African Americans.
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