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Related Concept Videos

Overview of Transposition and Recombination02:13

Overview of Transposition and Recombination

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Transposons make up a significant part of genomes of various organisms. Therefore, it is believed that transposition played a major evolutionary role in speciation by changing genome sizes and modifying gene expression patterns. For example, in bacteria, transposition can lead to conferring antibiotic resistance. Movement of transposable elements within the genetic pool of pathogenic bacteria can aid in transfer of antibiotic-resistant genetic elements. In eukaryotes, transposons can carry out...
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The basic reaction of homologous recombination (HR) involves two chromatids that contain DNA sequences sharing a significant stretch of identity. One of these sequences uses a strand from another as a template to synthesize DNA in an enzyme-catalyzed reaction. The final product is a novel amalgamation of the two substrates. To ensure an accurate recombination of sequences, HR is restricted to the S and G2 phases of the cell cycle. At these stages, the DNA has been replicated already and the...
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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
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The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
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Related Experiment Video

Updated: Apr 11, 2026

VDJ-Seq: Deep Sequencing Analysis of Rearranged Immunoglobulin Heavy Chain Gene to Reveal Clonal Evolution Patterns of B Cell Lymphoma
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Comprehensive characterization of V(D)J recombination from long-read transcriptomic data with VDJcraft.

Kaili Hu1, Alexander Rosenberg1, Yuwei Song1

  • 1Department of Biomedical Informatics and Data Science, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.

Biorxiv : the Preprint Server for Biology
|April 10, 2026
PubMed
Summary

VDJcraft is a new pipeline for analyzing V(D)J recombination in long-read sequencing data. It accurately identifies immune receptor genes and aids in discovering disease-associated immune signatures.

Keywords:
V(D)J recombinationVDJcraftapplicationimmunelong-read sequencingnovelperformancepipeline

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VDJ-Seq: Deep Sequencing Analysis of Rearranged Immunoglobulin Heavy Chain Gene to Reveal Clonal Evolution Patterns of B Cell Lymphoma
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Combined Immunofluorescence and DNA FISH on 3D-preserved Interphase Nuclei to Study Changes in 3D Nuclear Organization
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Area of Science:

  • Immunology
  • Genomics
  • Bioinformatics

Background:

  • V(D)J recombination is crucial for generating antigen receptor diversity in developing B and T cells.
  • Long-read transcriptome sequencing offers higher accuracy for V(D)J event resolution compared to short-read methods.
  • Existing analysis tools are not optimized for long-read data.

Purpose of the Study:

  • To develop the first integrated pipeline, VDJcraft, for V(D)J recombination analysis using long-read transcriptome sequencing data.
  • To improve the accuracy and sensitivity of V(D)J gene detection and recombination analysis.

Main Methods:

  • VDJcraft employs a two-pass alignment strategy: global alignment with minimap2 and local realignment with IMGT.
  • A customized module enhances D-gene detection sensitivity and positional precision.
  • Consensus-based correction reduces sequencing errors, and IMGT motifs annotate antigen-binding regions.

Main Results:

  • VDJcraft accurately recovered full-length V(D)J-C sequences, outperforming existing methods in gene detection and accuracy.
  • Long-read VDJ calls showed significantly higher concordance with high-confidence short-read calls.
  • Identified 31 novel gene subclasses and revealed distinct V(D)J recombination patterns in a COVID-19 patient.

Conclusions:

  • VDJcraft provides a robust framework for V(D)J characterization using long-read sequencing.
  • The pipeline enables the discovery of disease-associated immune signatures and novel immune gene subclasses.