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

Blood 2026 Open access

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Authors: Yanling Liu, Bensheng Ju, Li Dong, Melanie R. Loyd, Samuel W. Brady, Rhonda E. Ries, Yuan Feng, Heather L. Mulder, Emily M. Plyler, Christian Deardorff, Andrea McBride, Tyler Jones
+23 more Alexis Eckert, Pandurang S. Kolekar, Li Fan, Hanxia Li, Monta Brīvība, Huanbin Zhao, Declan Bennett, Geoffrey A. M. Neale, Ti‐Cheng Chang, Wenan Chen, Stanley B Pounds, Gang Wu, Charles Grenfell Mullighan, Paul Geeleher, Lingyun Ji, Jun J Yang, Soheil Meshinchi, Patrick Andrew Brown, William L. Carroll, Jinghui Zhang, Mignon L. Loh, John B. Easton, X X
DOI: 10.1182/blood.2025031289
Cited by: 0
References: 19

Abstract

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.

Fields of Study & Subjects

Genomic variations and chromosomal abnormalities Acute Lymphoblastic Leukemia research Genomics and Chromatin Dynamics

Publication details

Journal / source
Blood
Volume
147
Issue
13
Pages
1498–1502
Publication date
26 January 2026
Language
EN