Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion.

American journal of human genetics - 6 Jan 2022

Zhang Zhe, An Hyun Hyung, Vege Sunitha, Hu Taishan, Zhang Shiping, Mosbruger Timothy, Jayaraman Pushkala, Monos Dimitri, Westhoff Connie M, Chou Stella T

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anemia, Sickle Cell
Share to Blood Transfusion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Breakage

Share to Computational Biology

Share to Gene Duplication

Share to Genetic Heterogeneity

Share to Genetic Linkage

Share to Rh-Hr Blood-Group System

Source

Open in PubMed Open full text

Identifiers

PMID: 34968422
DOI: 10.1016/j.ajhg.2021.12.003
PMCID: PMC8764270

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion.PMID 34968422Read ↗

Allelic Cataloging of RHD-RHCE Reference Sequences Using Targeted Long-Read Sequencing.Semantic proximity Read ↗

Integrated analyses reveal unexpected complex inversion and recombination in RH genes.Semantic proximity Read ↗

Overcoming the challenges of interpreting complex and uncommon RH alleles from whole genomes.Semantic proximity Read ↗

A novel algorithm comprehensively characterizes human RH genes using whole-genome sequencing data.Semantic proximity Read ↗

Full-length haplotype reconstruction of CD36 by long-read sequencing: uncovers a novel structural variantSemantic proximity Read ↗

Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts.Semantic proximity Read ↗

Using de novo assembly to identify structural variation of eight complex immune system gene regions.Semantic proximity Read ↗

Complete RHD next-generation sequencing: establishment of reference RHD allelesSemantic proximity Read ↗

Long-read sequencing resolves structural variants in <i>SERPINC1</i> causing antithrombin deficiency and identifies a complex rearrangement and a retrotransposon insertion not characterized by routine diagnostic methodsSemantic proximity Read ↗

The comprehensive detection of hemoglobinopathy variants via long-read sequencingSemantic proximity Read ↗

Evaluation of targeted exome sequencing for 28 protein-based blood group systems, including the homologous gene systems, for blood group genotyping.Semantic proximity Read ↗

Resolving RH and GYP hybrid alleles while accessing the entire blood group genome with Nanopore adaptive samplingSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.