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

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.

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Publication Details

Journal
Blood
Published
2026-01-26
DOI
https://doi.org/10.1182/blood.2025031289
Primary Topic
CRISPR and Genetic Engineering
Type
article
Field-Weighted Citation Impact
0.00

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article

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

Patrick A. Brown, Lingyun Ji, W L Carroll, Heather L. Mulder et al.
Blood
CRISPR and Genetic Engineering
article

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

Patrick A. Brown, Lingyun Ji, W L Carroll, Heather L. Mulder, John M. Easton, Ti-Cheng Chang, Soheil Meshinchi, Y. Liu, Tyler Jones, Wenan CHEN, Huanbin Zhao, Melanie R. Loyd, Pandurang Kolekar, Andrea McBride, Christian Deardorff, D. W. Bennett, Hanxia Li, Rhonda E. Ries, Xiaotu Ma, Jun J Yang, Samuel W Brady, Bensheng Ju, Charles G. Mullighan, Mignon L. Loh, Emily Michelle Plyler, Monta Briviba, Jinghui Zhang, Li Fan, Gang Wu, Alexis Eckert, Geoff Neale, Yuan Feng, Li Dong
article en

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.

BloodVol. 147(13)
University of Southern California (US), St. Jude Children's Research Hospital (US), Nationwide Children's Hospital (US), Latvian Biomedical Research and Study Centre (LV), NYU Langone Health (US), Fred Hutch Cancer Center (US), Seattle Children's Hospital (US), Center for Cancer and Blood Disorders (US), Haemonetics (United States) (US)
Leukemia and Lymphoma Society, American Lebanese Syrian Associated Charities, National Institutes of Health, National Cancer Institute
Zero hunger
Openalex Percentile: Top 77%
CRISPR and Genetic Engineering
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