Uncovering the genomic complexity of PAX5 intragenic tandem multiplication via long-read and short-read sequencing

Blood. 2026 Mar 26;147(13):1498-1502. doi: 10.1182/blood.2025031289.

Abstract

By integrating short-read whole-genome sequencing and RNA sequencing (RNA-seq) data with long-read RNA-seq, we dissect the complex genomic architecture of PAX5 intragenic tandem multiplication, revealing that these complex rearrangements result in in-frame transcripts that likely encode proteins with altered domains.

MeSH terms

  • Gene Duplication*
  • Genome, Human
  • Genomics / methods
  • Humans
  • PAX5 Transcription Factor* / genetics
  • Sequence Analysis, RNA
  • Whole Genome Sequencing

Substances

  • PAX5 Transcription Factor
  • PAX5 protein, human