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VDJSeq-Solver: in silico V(D)J recombination detection tool.

Giulia Paciello1, Andrea Acquaviva1, Chiara Pighi2

  • 1Department of Control and Computer Engineering, Politecnico di Torino, Torino, Italy.

Plos One
|March 24, 2015
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Summary
This summary is machine-generated.

VDJSeq-Solver identifies the main clone in neoplastic cells using RNA sequencing. This tool accurately detects V(D)J rearrangements, overcoming limitations of previous methods for high-throughput data.

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Area of Science:

  • Immunology
  • Bioinformatics
  • Oncology

Background:

  • Identifying clonal lymphocyte populations is crucial for understanding lymphoid malignancies.
  • Current methods for recognizing lymphocyte rearrangements are not suitable for high-throughput sequencing data.
  • Neoplastic cells in lymphoid tissues are characterized by specific V(D)J rearrangements.

Purpose of the Study:

  • To present VDJSeq-Solver, a novel methodology and tool for identifying clonal lymphocyte populations from RNA sequencing reads.
  • To detect the most abundant V(D)J rearrangement, representing the main clone in neoplastic samples.
  • To provide a tool applicable to high-throughput sequencing data, overcoming existing limitations.

Main Methods:

  • Development of VDJSeq-Solver, a software tool implemented in JAVA/Perl/Bash.
  • Utilizing paired-end RNA sequencing reads from mRNA neoplastic cells.
  • Analyzing V(D)J rearrangements to identify the most abundant clone sequence, accounting for enzymatic modifications.

Main Results:

  • VDJSeq-Solver successfully detected the main clone and identified its sequence in five Mantle Cell Lymphoma samples.
  • The tool was further validated on twelve Diffuse Large B-Cell Lymphoma samples.
  • The methodology demonstrated effectiveness in handling high-throughput sequencing data for clone identification.

Conclusions:

  • VDJSeq-Solver is an effective tool for identifying clonal lymphocyte populations from RNA sequencing data.
  • The tool accurately determines the dominant V(D)J rearrangement sequence in neoplastic cells.
  • VDJSeq-Solver offers a significant advancement for analyzing high-throughput sequencing data in lymphoid cancer research.