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Related Experiment Video

Updated: Jun 25, 2026

Sequencing of mRNA from Whole Blood using Nanopore Sequencing
11:26

Sequencing of mRNA from Whole Blood using Nanopore Sequencing

Published on: June 3, 2019

Rapid Detection of Hemoglobinopathy Variants Using One-Step Library Preparation and Nanopore Sequencing.

Xu Yang1,2, Shang Yi3, Xingyu Wei4

  • 1Department of Institute of Antibody Engineering, School of Laboratory Medicine and Biotechnology, Southern Medical University, Guangzhou, China.

Clinical Chemistry
|June 23, 2026
PubMed
Summary

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A novel one-step library preparation (OSLP) method simplifies third-generation sequencing (TGS) for detecting hemoglobin variants. This efficient approach streamlines identification of hemoglobinopathies, improving genetic disorder screening.

Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • Third-generation sequencing (TGS) offers long-read capabilities for comprehensive rare hemoglobin variant detection.
  • Traditional library preparation for TGS is often labor-intensive and time-consuming.
  • A novel one-step library preparation (OSLP) method was developed to streamline this process.

Purpose of the Study:

  • To develop and validate a novel one-step library preparation (OSLP) method for third-generation sequencing (TGS).
  • To efficiently detect rare hemoglobin variants and structural variations.
  • To streamline the identification of hemoglobinopathy variants.

Main Methods:

  • Developed a one-step library preparation (OSLP) method integrating barcode sequences into target-specific primers.

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Related Experiment Videos

Last Updated: Jun 25, 2026

Sequencing of mRNA from Whole Blood using Nanopore Sequencing
11:26

Sequencing of mRNA from Whole Blood using Nanopore Sequencing

Published on: June 3, 2019

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

  • Applied OSLP targeting HBA2/1, HBG2/1, HBD, and HBB genes on the Qitan Nanopore platform.
  • Validated the method on 455 DNA samples (adult and prenatal) against established techniques like MLPA, Sanger sequencing, GAP-PCR, and RDB.

    • Main Results:

    • Achieved 100% concordance with routine methods in the validation cohort for α- and β-globin genotyping.
    • Identified additional, previously undetected α- and β-globin single nucleotide variants (SNVs) in the application cohort.
    • The OSLP-TGS-Nanopore assay successfully spanned breakpoints and determined cis/trans configurations, revealing novel variants in samples with low Hb A2 levels.

    Conclusions:

    • The OSLP-TGS-Nanopore assay is an efficient and comprehensive solution for detecting rare hemoglobinopathy variants.
    • The method streamlines library preparation, making TGS more accessible.
    • The framework is extendable for population screening of various genetic disorders.