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Stephen B. Montgomery
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15
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:
Integrated single-cell multiome analysis reveals muscle fiber-type gene regulatory circuitry modulated by endurance exercise
Aliza B. Rubenstein
,
Gregory R. Smith
,
Zidong Zhang
,
Xi Chen
,
Toby L. Chambers
,
Frederique Ruf-Zamojski
,
Natalia Mendelev
,
Wan Sze Cheng
,
Michel Zamojski
,
Mary Anne S. Amper
,
Venugopalan D. Nair
,
Andrew R. Marderstein
,
Stephen B. Montgomery
,
Olga G. Troyanskaya
,
Elena Zaslavsky
,
Todd Trappe
,
Scott Trappe
,
and
Stuart C. Sealfon
Genome Res.
July 2025
35
:
1664
-
1677
;
Published in Advance
May 20, 2025
,
doi:
10.1101/gr.280051.124
Abstract
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:
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease
Tanner D. Jensen
,
Bohan Ni
,
Chloe M. Reuter
,
John E. Gorzynski
,
Sarah Fazal
,
Devon Bonner
,
Rachel A. Ungar
,
Pagé C. Goddard
,
Archana Raja
,
Euan A. Ashley
,
Jonathan A. Bernstein
,
Stephan Zuchner
,
Undiagnosed Diseases Network
,
Michael D. Greicius
,
Stephen B. Montgomery
,
Michael C. Schatz
,
Matthew T. Wheeler
,
and
Alexis Battle
Genome Res.
April 2025
35
:
914
-
928
;
Published in Advance
March 20, 2025
,
doi:
10.1101/gr.279323.124
Abstract
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:
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
Jonas A. Gustafson
,
Sophia B. Gibson
,
Nikhita Damaraju
,
Miranda P.G. Zalusky
,
Kendra Hoekzema
,
David Twesigomwe
,
Lei Yang
,
Anthony A. Snead
,
Phillip A. Richmond
,
Wouter De Coster
,
Nathan D. Olson
,
Andrea Guarracino
,
Qiuhui Li
,
Angela L. Miller
,
Joy Goffena
,
Zachary B. Anderson
,
Sophie H.R. Storz
,
Sydney A. Ward
,
Maisha Sinha
,
Claudia Gonzaga-Jauregui
,
Wayne E. Clarke
,
Anna O. Basile
,
André Corvelo
,
Catherine Reeves
,
Adrienne Helland
,
Rajeeva Lochan Musunuri
,
Mahler Revsine
,
Karynne E. Patterson
,
Cate R. Paschal
,
Christina Zakarian
,
Sara Goodwin
,
Tanner D. Jensen
,
Esther Robb
,
The 1000 Genomes ONT Sequencing Consortium
,
University of Washington Center for Rare Disease Research (UW-CRDR)
,
Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium
,
William Richard McCombie
,
Fritz J. Sedlazeck
,
Justin M. Zook
,
Stephen B. Montgomery
,
Erik Garrison
,
Mikhail Kolmogorov
,
Michael C. Schatz
,
Richard N. McLaughlin, Jr.
,
Harriet Dashnow
,
Michael C. Zody
,
Matt Loose
,
Miten Jain
,
Evan E. Eichler
,
and
Danny E. Miller
Genome Res.
November 2024
34
:
2061
-
2073
;
Published in Advance
October 2, 2024
,
doi:
10.1101/gr.279273.124
Abstract
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Erratum
:
Erratum: A butterfly pan-genome reveals that a large amount of structural variation underlies the evolution of chromatin accessibility
Angelo A. Ruggieri
,
Luca Livraghi
,
James J. Lewis
,
Elizabeth Evans
,
Francesco Cicconardi
,
Laura Hebberecht
,
Yadira Ortiz-Ruiz
,
Stephen H. Montgomery
,
Alfredo Ghezzi
,
José Arcadio Rodriguez-Martinez
,
Chris D. Jiggins
,
W. Owen McMillan
,
Brian A. Counterman
,
Riccardo Papa
,
and
Steven M. Van Belleghem
Genome Res.
November/December 2022
32
:
2145
;
doi:
10.1101/gr.277534.122
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Research
:
A butterfly pan-genome reveals that a large amount of structural variation underlies the evolution of chromatin accessibility
Angelo A. Ruggieri
,
Luca Livraghi
,
James J. Lewis
,
Elizabeth Evans
,
Francesco Cicconardi
,
Laura Hebberecht
,
Yadira Ortiz-Ruiz
,
Stephen H. Montgomery
,
Alfredo Ghezzi
,
José Arcadio Rodriguez-Martinez
,
Chris D. Jiggins
,
W. Owen McMillan
,
Brian A. Counterman
,
Riccardo Papa
,
and
Steven M. Van Belleghem
Genome Res.
October 2022
32
:
1862
-
1875
;
Published in Advance
September 15, 2022
,
doi:
10.1101/gr.276839.122
Abstract
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Method
:
Co-expression networks reveal the tissue-specific regulation of transcription and splicing
Ashis Saha
,
Yungil Kim
,
Ariel D.H. Gewirtz
,
Brian Jo
,
Chuan Gao
,
Ian C. McDowell
,
The GTEx Consortium
,
Barbara E. Engelhardt
,
and
Alexis Battle
Genome Res.
November 2017
27
:
1843
-
1858
;
Published in Advance
October 11, 2017
,
doi:
10.1101/gr.216721.116
Abstract
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Method
:
Identifying
cis
-mediators for
trans
-eQTLs across many human tissues using genomic mediation analysis
Fan Yang
,
Jiebiao Wang
,
The GTEx Consortium
,
Brandon L. Pierce
,
and
Lin S. Chen
Genome Res.
November 2017
27
:
1859
-
1871
;
Published in Advance
October 11, 2017
,
doi:
10.1101/gr.216754.116
Abstract
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Research
:
Impact of the X Chromosome and sex on regulatory variation
Kimberly R. Kukurba
,
Princy Parsana
,
Brunilda Balliu
,
Kevin S. Smith
,
Zachary Zappala
,
David A. Knowles
,
Marie-Julie Favé
,
Joe R. Davis
,
Xin Li
,
Xiaowei Zhu
,
James B. Potash
,
Myrna M. Weissman
,
Jianxin Shi
,
Anshul Kundaje
,
Douglas F. Levinson
,
Philip Awadalla
,
Sara Mostafavi
,
Alexis Battle
,
and
Stephen B. Montgomery
Genome Res.
June 2016
26
:
768
-
777
;
Published in Advance
April 21, 2016
,
doi:
10.1101/gr.197897.115
Abstract
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Research
:
The landscape of genomic imprinting across diverse adult human tissues
Yael Baran
,
Meena Subramaniam
,
Anne Biton
,
Taru Tukiainen
,
Emily K. Tsang
,
Manuel A. Rivas
,
Matti Pirinen
,
Maria Gutierrez-Arcelus
,
Kevin S. Smith
,
Kim R. Kukurba
,
Rui Zhang
,
Celeste Eng
,
Dara G. Torgerson
,
Cydney Urbanek
,
the GTEx Consortium
,
Jin Billy Li
,
Jose R. Rodriguez-Santana
,
Esteban G. Burchard
,
Max A. Seibold
,
Daniel G. MacArthur
,
Stephen B. Montgomery
,
Noah A. Zaitlen
,
and
Tuuli Lappalainen
Genome Res.
July 2015
25
:
927
-
936
;
Published in Advance
May 7, 2015
,
doi:
10.1101/gr.192278.115
Abstract
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Research
:
Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals
Alexis Battle
,
Sara Mostafavi
,
Xiaowei Zhu
,
James B. Potash
,
Myrna M. Weissman
,
Courtney McCormick
,
Christian D. Haudenschild
,
Kenneth B. Beckman
,
Jianxin Shi
,
Rui Mei
,
Alexander E. Urban
,
Stephen B. Montgomery
,
Douglas F. Levinson
,
and
Daphne Koller
Genome Res.
January 2014
24
:
14
-
24
;
Published in Advance
October 3, 2013
,
doi:
10.1101/gr.155192.113
Abstract
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