ArticleAmerican journal of human genetics2022
Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion.
Article in American journal of human genetics, 2022. 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, 36 citations in OpenAlex.
- Identification of breakpoint regions and single nucleotide variations of RHD hybrid alleles by long-read sequencing.Vox sanguinis · 2026Article
- Towards haplotypes of blood group genes: the impact of long-read sequencing in molecular immunohematology.Annals of translational medicine · 2026Article
- Proof-of-principle: nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid alleles.Blood advances · 2026Article
- Bridging the Gap: High-ResolutionHuman mutation · 2026Article
- Characterization of blood group variants in an Omani population by comparison of whole genome sequencing and serology.Transfusion · 2025Article
- Methods, applications, and computational challenges in bait capture enrichment.Cell reports methods · 2025Review
- Establishment and Clinical Application of Rh Blood Group Bank in the East China Region.International journal of general medicine · 2025Article
- CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA.Genetics in medicine open · 2025Article
- Targeted and complete genomic sequencing of the major histocompatibility complex in haplotypic form of individual heterozygous samples.Genome research · 2024Article
- Haplotypes analysis reveals the genetic basis of type I CD36 deficiency.Scientific reports · 2024Article
- Problems with Paralogs: The Promise and Challenges of Gene Duplicates in Evo-Devo Research.Integrative and comparative biology · 2024Review
- Integrated analyses reveal unexpected complex inversion and recombination in RH genes.Blood advances · 2024Article
- The nuclear and mitochondrial genome assemblies of Tetragonisca angustula (Apidae: Meliponini), a tiny yet remarkable pollinator in the Neotropics.BMC genomics · 2024Article
- DNA Reference Reagents for Genotyping RH Variants.The Journal of molecular diagnostics : JMD · 2024Article
- A machine-learning method for biobank-scale genetic prediction of blood group antigens.PLoS computational biology · 2024Article
- Resolving Genotype-Phenotype Discrepancies of the Kidd Blood Group System Using Long-Read Nanopore Sequencing.Biomedicines · 2024Article
- Long-Read Sequencing in Blood Group Genetics.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2023Review
- RH gene inversion-recombination as a major mechanism of the D phenotype in China.Blood transfusion = Trasfusione del sangueArticle
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Next-generation sequencing (NGS) technologies have transformed medical genetics. However, short-read lengths pose a limitation on identification of structural variants, sequencing repetitive regions, phasing of distant nucleotide changes, and distinguishing highly homologous genomic regions. Long-read sequencing technologies may offer improvements in the characterization of genes that are currently difficult to assess. We used a combination of targeted DNA capture, long-read sequencing, and a customized bioinformatics pipeline to fully assemble the RH region, which harbors variation relevant to red cell donor-recipient mismatch, particularly among patients with sickle cell disease. RHD and RHCE are a pair of duplicated genes located within an ∼175 kb region on human chromosome 1 that have high sequence similarity and frequent structural variations. To achieve the assembly, we utilized palindrome repeats in PacBio SMRT reads to obtain consensus sequences of 2.1 to 2.9 kb average length with over 99% accuracy. We used these long consensus sequences to identify 771 assembly markers and to phase the RHD-RHCE region with high confidence. The dataset enabled direct linkage between coding and intronic variants, phasing of distant SNPs to determine RHD-RHCE haplotypes, and identification of known and novel structural variations along with the breakpoints. A limiting factor in phasing is the frequency of heterozygous assembly markers and therefore was most successful in samples from African Black individuals with increased heterogeneity at the RH locus. Overall, this approach allows RH genotyping and de novo assembly in an unbiased and comprehensive manner that is necessary to expand application of NGS technology to high-resolution RH typing.
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