Search | Genome Research

Closing the gaps, and improving somatic structural variant analysis and benchmarking using CHM13-T2T

Luis F. Paulin
Jeremy Fan
Kieran O'Neill
Erin Pleasance
Vanessa L. Porter
Steven J.M. Jones
Fritz J. Sedlazeck

First Published March 17, 2025

Integrating short-read and long-read single-cell RNA sequencing for comprehensive transcriptome profiling in mouse retina

Meng Wang
Yumei Li
Jun Wang
Soo Hwan Oh
Yexuan Cao
Rui Chen

First Published March 6, 2025

Rearrangements of viral and human genomes at human papillomavirus integration events and their allele-specific impacts on cancer genome regulation

Vanessa L. Porter
Michelle Ng
Kieran O'Neill
Signe MacLennan
Richard D. Corbett
Luka Culibrk Zeid Hamadeh Marissa Iden Rachel Schmidt Shirng-Wern Tsaih Carolyn Nakisige Martin Origa Jackson Orem Glenn Chang Jeremy Fan Ka Ming Nip Vahid Akbari Simon K. Chan James Hopkins Richard A. Moore Eric Chuah Karen L. Mungall Andrew J. Mungall
... [+18 authors] ...,
Inanc Birol
Steven J.M. Jones
Janet S. Rader
Marco A. Marra

First Published December 5, 2024

CodonBERT large language model for mRNA vaccines

Sizhen Li
Saeed Moayedpour
Ruijiang Li
Michael Bailey
Saleh Riahi
Lorenzo Kogler-Anele Milad Miladi Jacob Miner Fabien Pertuy Dinghai Zheng Jun Wang Akshay Balsubramani Khang Tran Minnie Zacharia Monica Wu Xiaobo Gu Ryan Clinton Carla Asquith Joseph Skaleski Lianne Boeglin Sudha Chivukula Anusha Dias Tod Strugnell
... [+18 authors] ...,
Fernando Ulloa Montoya
Vikram Agarwal
Ziv Bar-Joseph
Sven Jager

First Published July 1, 2024

Predicting unrecognized enhancer-mediated genome topology by an ensemble machine learning model

Li Tang
Matthew C. Hill
Jun Wang
Jianxin Wang
James F. Martin
Min Li

First Published November 12, 2020

Assembly and analysis of 100 full MHC haplotypes from the Danish population

Jacob M. Jensen
Palle Villesen
Rune M. Friborg
Thomas Mailund
Søren Besenbacher
Mikkel H. Schierup Lasse Maretty Jacob Malte Jensen Bent Petersen Jonas Andreas Sibbesen Siyang Liu Palle Villesen Laurits Skov Kirstine Belling Christian Theil Have Jose M.G. Izarzugaza Marie Grosjean Jette Bork-Jensen Jakob Grove Thomas D. Als Shujia Huang Yuqi Chang Ruiqi Xu Weijian Ye Junhua Rao Xiaosen Guo Jihua Sun Hongzhi Cao Chen Ye Johan v Beusekom Thomas Espeseth Esben Flindt Rune M. Friborg Anders E. Halager Stephanie Le Hellard Christina M. Hultman Francesco Lescai Shengting Li Ole Lund Peter Løngren Thomas Mailund Maria Luisa Matey-Hernandez Ole Mors Christian N.S. Pedersen Thomas Sicheritz-Pontén Patrick Sullivan Ali Syed David Westergaard Rachita Yadav Ning Li Xun Xu Torben Hansen Anders Krogh Lars Bolund Thorkild I.A. Sørensen Oluf Pedersen Ramneek Gupta Simon Rasmussen Søren Besenbacher Anders D. Børglum Jun Wang
... [+56 authors] ...,
Hans Eiberg
Karsten Kristiansen
Søren Brunak
Mikkel Heide Schierup

First Published August 3, 2017

SCRaMbLE generates designed combinatorial stochastic diversity in synthetic chromosomes

Yue Shen
Giovanni Stracquadanio
Yun Wang
Kun Yang
Leslie A. Mitchell
Yaxin Xue Yizhi Cai Tai Chen Jessica S. Dymond Kang Kang Jianhui Gong Xiaofan Zeng Yongfen Zhang Yingrui Li Qiang Feng Xun Xu Jun Wang
... [+12 authors] ...,
Jian Wang
Huanming Yang
Jef D. Boeke
Joel S. Bader

First Published November 13, 2015

Epigenetic modification and inheritance in sexual reversal of fish

Changwei Shao
Qiye Li
Songlin Chen
Pei Zhang
Jinmin Lian
Qiaomu Hu Bing Sun Lijun Jin Shanshan Liu Zongji Wang Hongmei Zhao Zonghui Jin Zhuo Liang Yangzhen Li
... [+9 authors] ...,
Qiumei Zheng
Yong Zhang
Jun Wang
Guojie Zhang

First Published February 2, 2014

Whole-genome sequencing identifies recurrent mutations in hepatocellular carcinoma

Zhengyan Kan
Hancheng Zheng
Xiao Liu
Shuyu Li
Thomas D. Barber
Zhuolin Gong Huan Gao Ke Hao Melinda D. Willard Jiangchun Xu Robert Hauptschein Paul A. Rejto Julio Fernandez Guan Wang Qinghui Zhang Bo Wang Ronghua Chen Jian Wang Nikki P. Lee Wei Zhou Zhao Lin Zhiyu Peng Kang Yi Shengpei Chen Lin Li Xiaomei Fan Jie Yang Rui Ye Jia Ju Kai Wang Heather Estrella Shibing Deng Ping Wei Ming Qiu Isabella H. Wulur Jiangang Liu Mariam E. Ehsani Chunsheng Zhang Andrey Loboda Wing Kin Sung Amit Aggarwal Ronnie T. Poon Sheung Tat Fan Jun Wang James Hardwick Christoph Reinhard
... [+41 authors] ...,
Hongyue Dai
Yingrui Li
John M. Luk
Mao Mao

First Published June 20, 2013

Pyrus bretschneideri Rehd.)" > The genome of the pear (Pyrus bretschneideri Rehd.)

Jun Wu
Zhiwen Wang
Zebin Shi
Shu Zhang
Ray Ming
Shilin Zhu M. Awais Khan Shutian Tao Schuyler S. Korban Hao Wang Nancy J. Chen Takeshi Nishio Xun Xu Lin Cong Kaijie Qi Xiaosan Huang Yingtao Wang Xiang Zhao Juyou Wu Cao Deng Caiyun Gou Weili Zhou Hao Yin Gaihua Qin Yuhui Sha Ye Tao Hui Chen Yanan Yang Yue Song Dongliang Zhan Juan Wang Leiting Li Meisong Dai Chao Gu Yuezhi Wang Daihu Shi Xiaowei Wang Huping Zhang Liang Zeng Danman Zheng Chunlei Wang Maoshan Chen Guangbiao Wang Lin Xie Valpuri Sovero Shoufeng Sha Wenjiang Huang Shujun Zhang Mingyue Zhang Jiangmei Sun Linlin Xu Yuan Li Xing Liu Qingsong Li Jiahui Shen Junyi Wang
... [+51 authors] ...,
Robert E. Paull
Jeffrey L. Bennetzen
Jun Wang
Shaoling Zhang

First Published November 13, 2012

SOAPindel: Efficient identification of indels from short paired reads

Shengting Li
Ruiqiang Li
Heng Li
Jianliang Lu
Yingrui Li
Lars Bolund
Mikkel H. Schierup
Jun Wang

First Published September 12, 2012

Spark: A navigational paradigm for genomic data exploration

Cydney B. Nielsen
Hamid Younesy
Henriette O'Geen
Xiaoqin Xu
Andrew R. Jackson
Aleksandar Milosavljevic Ting Wang
... [+2 authors] ...,
Joseph F. Costello
Martin Hirst
Peggy J. Farnham
Steven J.M. Jones

First Published September 7, 2012

Mycosphaerella graminicola and its wild sister species" > The making of a new pathogen: Insights from comparative population genomics of the domesticated wheat pathogen Mycosphaerella graminicola and its wild sister species

Eva H. Stukenbrock
Thomas Bataillon
Julien Y. Dutheil
Troels T. Hansen
Ruiqiang Li
Marcello Zala
Bruce A. McDonald
Jun Wang
Mikkel H. Schierup

First Published October 12, 2011

Acromyrmex echinatior suggests key adaptations to advanced social life and fungus farming" > The genome of the leaf-cutting ant Acromyrmex echinatior suggests key adaptations to advanced social life and fungus farming

Sanne Nygaard
Guojie Zhang
Morten Schiøtt
Cai Li
Yannick Wurm
Haofu Hu Jiajian Zhou Lu Ji Feng Qiu Morten Rasmussen Hailin Pan Frank Hauser
... [+7 authors] ...,
Anders Krogh
Cornelis J.P. Grimmelikhuijzen
Jun Wang
Jacobus J. Boomsma

First Published June 30, 2011

Locus co-occupancy, nucleosome positioning, and H3K4me1 regulate the functionality of FOXA2-, HNF4A-, and PDX1-bound loci in islets and liver

Brad G. Hoffman
Gordon Robertson
Bogard Zavaglia
Mike Beach
Rebecca Cullum
Sam Lee Galina Soukhatcheva Leping Li Elizabeth D. Wederell Nina Thiessen Mikhail Bilenky Timothee Cezard Angela Tam Baljit Kamoh Inanc Birol Derek Dai YongJun Zhao Martin Hirst C. Bruce Verchere
... [+14 authors] ...,
Cheryl D. Helgason
Marco A. Marra
Steven J.M. Jones
Pamela A. Hoodless

First Published June 15, 2010

The genome sequence of the spontaneously hypertensive rat: Analysis and functional significance

Santosh S. Atanur
İnanç Birol
Victor Guryev
Martin Hirst
Oliver Hummel
Catherine Morrissey Jacques Behmoaras Xose M. Fernandez-Suarez Michelle D. Johnson William M. McLaren Giannino Patone Enrico Petretto Charles Plessy Kathleen S. Rockland Charles Rockland Kathrin Saar Yongjun Zhao Piero Carninci Paul Flicek Ted Kurtz Edwin Cuppen Michal Pravenec
... [+17 authors] ...,
Norbert Hubner
Steven J.M. Jones
Ewan Birney
Timothy J. Aitman

First Published April 29, 2010

Deep RNA sequencing at single base-pair resolution reveals high complexity of the rice transcriptome

Guojie Zhang
Guangwu Guo
Xueda Hu
Yong Zhang
Qiye Li
Ruiqiang Li Ruhong Zhuang Zhike Lu Zengquan He Xiaodong Fang Li Chen Wei Tian Yong Tao Karsten Kristiansen Xiuqing Zhang
... [+10 authors] ...,
Songgang Li
Huanming Yang
Jian Wang
Jun Wang

First Published March 19, 2010

De novo assembly of human genomes with massively parallel short read sequencing

Ruiqiang Li
Hongmei Zhu
Jue Ruan
Wubin Qian
Xiaodong Fang
Zhongbin Shi Yingrui Li Shengting Li Gao Shan Karsten Kristiansen
... [+5 authors] ...,
Songgang Li
Huanming Yang
Jian Wang
Jun Wang

First Published December 17, 2009

The completion of the Mammalian Gene Collection (MGC)

Gary Temple
Daniela S. Gerhard
Rebekah Rasooly
Elise A. Feingold
Peter J. Good
Cristen Robinson Allison Mandich Jeffrey G. Derge Jeanne Lewis Debonny Shoaf Francis S. Collins Wonhee Jang Lukas Wagner Carolyn M. Shenmen Leonie Misquitta Carl F. Schaefer Kenneth H. Buetow Tom I. Bonner Linda Yankie Ming Ward Lon Phan Alex Astashyn Garth Brown Catherine Farrell Jennifer Hart Melissa Landrum Bonnie L. Maidak Michael Murphy Terence Murphy Bhanu Rajput Lillian Riddick David Webb Janet Weber Wendy Wu Kim D. Pruitt Donna Maglott Adam Siepel Brona Brejova Mark Diekhans Rachel Harte Robert Baertsch Jim Kent David Haussler Michael Brent Laura Langton Charles L.G. Comstock Michael Stevens Chaochun Wei Marijke J. van Baren Kourosh Salehi-Ashtiani Ryan R. Murray Lila Ghamsari Elizabeth Mello Chenwei Lin Christa Pennacchio Kirsten Schreiber Nicole Shapiro Amber Marsh Elizabeth Pardes Troy Moore Anita Lebeau Mike Muratet Blake Simmons David Kloske Stephanie Sieja James Hudson Praveen Sethupathy Michael Brownstein Narayan Bhat Joseph Lazar Howard Jacob Chris E. Gruber Mark R. Smith John McPherson Angela M. Garcia Preethi H. Gunaratne Jiaqian Wu Donna Muzny Richard A. Gibbs Alice C. Young Gerard G. Bouffard Robert W. Blakesley Jim Mullikin Eric D. Green Mark C. Dickson Alex C. Rodriguez Jane Grimwood Jeremy Schmutz Richard M. Myers Martin Hirst Thomas Zeng Kane Tse Michelle Moksa Merinda Deng Kevin Ma Diana Mah Johnson Pang Greg Taylor Eric Chuah Athena Deng Keith Fichter Anne Go Stephanie Lee Jing Wang Malachi Griffith Ryan Morin Richard A. Moore Michael Mayo Sarah Munro Susan Wagner Steven J.M. Jones Robert A. Holt Marco A. Marra Sun Lu Shuwei Yang James Hartigan Marcus Graf Ralf Wagner Stanley Letovksy Jacqueline C. Pulido Keith Robison Dominic Esposito James Hartley
... [+118 authors] ...,
Vanessa E. Wall
Ralph F. Hopkins
Osamu Ohara
Stefan Wiemann

First Published September 18, 2009

SNP detection for massively parallel whole-genome resequencing

Ruiqiang Li
Yingrui Li
Xiaodong Fang
Huanming Yang
Jian Wang
Karsten Kristiansen
Jun Wang

First Published May 6, 2009

ABySS: A parallel assembler for short read sequence data

Jared T. Simpson
Kim Wong
Shaun D. Jackman
Jacqueline E. Schein
Steven J.M. Jones
İnanç Birol

First Published February 27, 2009

Genome-wide relationship between histone H3 lysine 4 mono- and tri-methylation and transcription factor binding

A. Gordon Robertson
Mikhail Bilenky
Angela Tam
Yongjun Zhao
Thomas Zeng
Nina Thiessen Timothee Cezard Anthony P. Fejes Elizabeth D. Wederell Rebecca Cullum Ghia Euskirchen Martin Krzywinski Inanc Birol Michael Snyder
... [+9 authors] ...,
Pamela A. Hoodless
Martin Hirst
Marco A. Marra
Steven J.M. Jones

First Published September 11, 2008

The new paradigm of flow cell sequencing

Robert A. Holt
Steven J.M. Jones

First Published June 2, 2008

Caenorhabditis elegans operons" > Identification and analysis of internal promoters in Caenorhabditis elegans operons

Peiming Huang
Erin D. Pleasance
Jason S. Maydan
Rebecca Hunt-Newbury
Nigel J. O’Neil
Allan Mah
... [+1 authors] ...,
David L. Baillie
Marco A. Marra
Donald G. Moerman
Steven J.M. Jones

First Published August 21, 2007

Locating mammalian transcription factor binding sites: A survey of computational and experimental techniques

Laura Elnitski
Victor X. Jin
Peggy J. Farnham
Steven J.M. Jones

First Published October 19, 2006

Physical map-assisted whole-genome shotgun sequence assemblies

René L. Warren
Dmitry Varabei
Darren Platt
Xiaoqiu Huang
David Messina
Shiaw-Pyng Yang James W. Kronstad Martin Krzywinski Wesley C. Warren John W. Wallis LaDeana W. Hillier Asif T. Chinwalla Jacqueline E. Schein
... [+8 authors] ...,
Asim S. Siddiqui
Marco A. Marra
Richard K. Wilson
Steven J.M. Jones

First Published June 1, 2006

Xenopus laevis and Xenopus tropicalis reveals post-tetraploidization transcriptome remodeling" > Sequencing and analysis of 10,967 full-length cDNA clones from Xenopus laevis and Xenopus tropicalis reveals post-tetraploidization transcriptome remodeling

Ryan D. Morin
Elbert Chang
Anca Petrescu
Nancy Liao
Malachi Griffith
Robert Kirkpatrick Yaron S. Butterfield Alice C. Young Jeffrey Stott Sarah Barber Ryan Babakaiff Mark C. Dickson Corey Matsuo David Wong George S. Yang Duane E. Smailus Keith D. Wetherby Peggy N. Kwong Jane Grimwood Charles P. Brinkley Mabel Brown-John Natalie D. Reddix-Dugue Michael Mayo Jeremy Schmutz Jaclyn Beland Morgan Park Susan Gibson Teika Olson Gerard G. Bouffard Miranda Tsai Ruth Featherstone Steve Chand Asim S. Siddiqui Wonhee Jang Ed Lee Steven L. Klein Robert W. Blakesley Barry R. Zeeberg Sudarshan Narasimhan John N. Weinstein Christa Prange Pennacchio Richard M. Myers Eric D. Green Lukas Wagner
... [+39 authors] ...,
Daniela S. Gerhard
Marco A. Marra
Steven J.M. Jones
Robert A. Holt

First Published May 3, 2006

Arabidopsis" > A microarray analysis of the rice transcriptome and its comparison to Arabidopsis

Ligeng Ma
Chen Chen
Xigang Liu
Yuling Jiao
Ning Su
Lin Li Xiangfeng Wang Mengliang Cao Ning Sun Xiuqing Zhang Jingyue Bao Jian Li Soren Pedersen Lars Bolund Hongyu Zhao Longping Yuan
... [+11 authors] ...,
Gane Ka-Shu Wong
Jun Wang
Xing Wang Deng
Jian Wang

First Published September 1, 2005

Origin and evolution of new exons in rodents

Wen Wang
Hongkun Zheng
Shuang Yang
Haijing Yu
Jun Li
Huifeng Jiang Jianning Su Lei Yang Jianguo Zhang Jason McDermott Ram Samudrala Jian Wang Huanming Yang
... [+8 authors] ...,
Jun Yu
Karsten Kristiansen
Gane Ka-Shu Wong
Jun Wang

First Published August 18, 2005

C. elegans daf-2 mutants using serial analysis of gene expression" > Analysis of long-lived C. elegans daf-2 mutants using serial analysis of gene expression

Julius Halaschek-Wiener
Jaswinder S. Khattra
Sheldon McKay
Anatoli Pouzyrev
Jeff M. Stott
George S. Yang Robert A. Holt
... [+2 authors] ...,
Steven J.M. Jones
Marco A. Marra
Angela R. Brooks-Wilson
Donald L. Riddle

First Published April 18, 2005

Mapping segmental and sequence variations among laboratory mice using BAC array CGH

Antoine M. Snijders
Norma J. Nowak
Bing Huey
Jane Fridlyand
Sindy Law
Jeffrey Conroy Taku Tokuyasu Kubilay Demir Readman Chiu Jian-Hua Mao Ajay N. Jain
... [+6 authors] ...,
Steven J.M. Jones
Allan Balmain
Daniel Pinkel
Donna G. Albertson

First Published February 1, 2005

Sockeye: A 3D Environment for Comparative Genomics

Stephen B. Montgomery
Tamara Astakhova
Mikhail Bilenky
Ewan Birney
Tony Fu
Maik Hassel Craig Melsopp Marcin Rak
... [+3 authors] ...,
A. Gordon Robertson
Monica Sleumer
Asim S. Siddiqui
Steven J.M. Jones

First Published May 3, 2004

Development and Application of a Salmonid EST Database and cDNA Microarray: Data Mining and Interspecific Hybridization Characteristics

Matthew L. Rise
Kristian R. von Schalburg
Gordon D. Brown
Melanie A. Mawer
Robert H. Devlin
Nathanael Kuipers Maura Busby Marianne Beetz-Sargent Roberto Alberto A. Ross Gibbs Peter Hunt Robert Shukin Jeffrey A. Zeznik Colleen Nelson Simon R.M. Jones Duane E. Smailus Steven J.M. Jones Jacqueline E. Schein Marco A. Marra Yaron S.N. Butterfield
... [+15 authors] ...,
Jeff M. Stott
Siemon H.S. Ng
William S. Davidson
Ben F. Koop

First Published February 12, 2004

Internet Contig Explorer (iCE)—A Tool for Visualizing Clone Fingerprint Maps

Christopher D. Fjell
Ian Bosdet
Jacqueline E. Schein
Steven J.M. Jones
Marco A. Marra

First Published June 1, 2003

Assessment of SAGE in Transcript Identification

Erin D. Pleasance
Marco A. Marra
Steven J.M. Jones

First Published May 12, 2003

Software for Automated Analysis of DNA Fingerprinting Gels

Daniel R. Fuhrmann
Martin I. Krzywinski
Readman Chiu
Parvaneh Saeedi
Jacqueline E. Schein
Ian E. Bosdet Asif Chinwalla LaDeana W. Hillier
... [+3 authors] ...,
Robert H. Waterston
John D. McPherson
Steven J.M. Jones
Marco A. Marra

First Published May 1, 2003

Cryptococcus neoformans " > Temperature-Regulated Transcription in the Pathogenic Fungus Cryptococcus neoformans

Barbara R. Steen
Tian Lian
Scott Zuyderduyn
William Kim MacDonald
Marco Marra
Steven J.M. Jones
James W. Kronstad

First Published September 1, 2002

Cryptococcus neoformans " > Physical Maps for Genome Analysis of Serotype A and D Strains of the Fungal Pathogen Cryptococcus neoformans

Jacqueline E. Schein
Kristin L. Tangen
Readman Chiu
Heesun Shin
Klaus B. Lengeler
William Kim MacDonald Ian Bosdet
... [+2 authors] ...,
Joseph Heitman
Steven J.M. Jones
Marco A. Marra
James W. Kronstad

First Published August 21, 2002

Chlamydia Species Reflect an Ancestral Relationship between Chlamydiaceae, Cyanobacteria, and the Chloroplast" > Evidence That Plant-Like Genes in Chlamydia Species Reflect an Ancestral Relationship between Chlamydiaceae, Cyanobacteria, and the Chloroplast

Fiona S.L. Brinkman
Jeffrey L. Blanchard
Artem Cherkasov
Yossef Av-Gay
Robert C. Brunham
Rachel C. Fernandez B. Brett Finlay Sarah P. Otto B.F. Francis Ouellette
... [+4 authors] ...,
Patrick J. Keeling
Ann M. Rose
Robert E.W. Hancock
Steven J.M. Jones

First Published July 19, 2002

Gramineae Genes" > Compositional Gradients in Gramineae Genes

Gane Ka-Shu Wong
Jun Wang
Lin Tao
Jun Tan
JianGuo Zhang
Douglas A. Passey
Jun Yu

First Published June 1, 2002

RePS: A Sequence Assembler That Masks Exact Repeats Identified from the Shotgun Data" > `RePS:` A Sequence Assembler That Masks Exact Repeats Identified from the Shotgun Data

Jun Wang
Gane Ka-Shu Wong
Peixiang Ni
Yujun Han
Xiangang Huang
Jianguo Zhang Chen Ye Yong Zhang Jianfei Hu Kunlin Zhang Xin Xu Lijuan Cong Hong Lu Xide Ren Xiaoyu Ren Jun He Lin Tao Douglas A. Passey
... [+13 authors] ...,
Jian Wang
Huanming Yang
Jun Yu
Songgang Li

First Published May 1, 2002

Caenorhabditis elegans " > Changes in Gene Expression Associated with Developmental Arrest and Longevity in Caenorhabditis elegans

Steven J.M. Jones
Donald L. Riddle
Anatoli T. Pouzyrev
Victor E. Velculescu
LaDeana Hillier
Sean R. Eddy
... [+1 authors] ...,
Shawn L. Stricklin
David L. Baillie
Robert Waterston
Marco A. Marra

First Published July 12, 2001

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