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

Y Yanling Liu B Bensheng Ju L Li Dong M Melanie Loyd (2Hartwell Center for Biotechnology, St. Jude Children’s Research Hospital, Memphis, TN) S Samuel W. Brady R Rhonda Ries Y Yuan Feng H Heather Mulder E Emily Plyler C Christian Deardorff (5Nationwide Children’s Hospital, Columbus, OH) A Andrea McBride (5Nationwide Children’s Hospital, Columbus, OH) T Tyler Jones A Alexis Eckert (5Nationwide Children’s Hospital, Columbus, OH) P Pandurang Kolekar (1Department of Computational Biology, St. Jude Children’s Research Hospital, Memphis, TN) L Li Fan H Hanxia Li (1Department of Computational Biology, St. Jude Children’s Research Hospital, Memphis, TN) M Monta Brīvība H Huanbin Zhao D Declan Bennett G Geoff Neale (2Hartwell Center for Biotechnology, St. Jude Children’s Research Hospital, Memphis, TN) T Ti-Cheng Chang W Wenan Chen S Stanley Pounds G Gang Wu C Charles Mullighan (9Department of Pathology, St. Jude Children’s Research Hospital, Memphis, TN) P Paul Geeleher L Lingyun Ji J Jun J. Yang (Department of Pharmacy and Pharmaceutical Sciences) S Soheil Meshinchi P Patrick A. Brown (11BeOne Medicines, Cambridge, MA) W William L. Carroll (12Department of Pediatrics, NYU Langone Health, New York, NY) J Jinghui Zhang M Mignon L. Loh (Seattle Children’s Hospital, Seattle) J John Easton X Xiaotu Ma (1Department of Computational Biology, St. Jude Children’s Research Hospital, Memphis, TN)

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.

Article Details

Journal Blood
Volume / Issue Vol. 147, Issue 13
Published March 26, 2026
Pages 1498-1502
ISSN 0006-4971
Publisher Elsevier BV

Journal Info

Blood

Elsevier BV

ISSN: 0006-4971 Health Sciences

Authors (35)

Y

Yanling Liu

B

Bensheng Ju

L

Li Dong

M

Melanie Loyd

2Hartwell Center for Biotechnology, St. Jude Children’s Research Hospital, Memphis, TN

S

Samuel W. Brady

R

Rhonda Ries

Y

Yuan Feng

H

Heather Mulder

E

Emily Plyler

C

Christian Deardorff

5Nationwide Children’s Hospital, Columbus, OH

A

Andrea McBride

5Nationwide Children’s Hospital, Columbus, OH

T

Tyler Jones

A

Alexis Eckert

5Nationwide Children’s Hospital, Columbus, OH

P

Pandurang Kolekar

1Department of Computational Biology, St. Jude Children’s Research Hospital, Memphis, TN

L

Li Fan

H

Hanxia Li

1Department of Computational Biology, St. Jude Children’s Research Hospital, Memphis, TN

M

Monta Brīvība

H

Huanbin Zhao

D

Declan Bennett

G

Geoff Neale

2Hartwell Center for Biotechnology, St. Jude Children’s Research Hospital, Memphis, TN

T

Ti-Cheng Chang

W

Wenan Chen

S

Stanley Pounds

G

Gang Wu

C

Charles Mullighan

9Department of Pathology, St. Jude Children’s Research Hospital, Memphis, TN

P

Paul Geeleher

L

Lingyun Ji

J

Jun J. Yang

Department of Pharmacy and Pharmaceutical Sciences

S

Soheil Meshinchi

P

Patrick A. Brown

11BeOne Medicines, Cambridge, MA

W

William L. Carroll

12Department of Pediatrics, NYU Langone Health, New York, NY

J

Jinghui Zhang

M

Mignon L. Loh

Seattle Children’s Hospital, Seattle

J

John Easton

X

Xiaotu Ma

1Department of Computational Biology, St. Jude Children’s Research Hospital, Memphis, TN