Search | Genome Research

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

Research

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

Method

Genomic loci susceptible to systematic sequencing bias in clinical whole genomes

Timothy M. Freeman
Dennis Wang
Jason Harris
John C. Ambrose
Prabhu Arumugam
Emma L. Baple Marta Bleda Freya Boardman-Pretty Jeanne M. Boissiere Christopher R. Boustred Mark J. Caulfield Georgia C. Chan Clare E.H. Craig Louise C. Daugherty Anna de Burca Andrew Devereau Greg Elgar Rebecca E. Foulger Tom Fowler Pedro Furió-Tarí Joanne M. Hackett Dina Halai Angela Hamblin Shirley Henderson James E. Holman Tim J.P. Hubbard Kristina Ibáñez Rob Jackson Louise J. Jones Dalia Kasperaviciute Melis Kayikci Lea Lahnstein Kay Lawson Sarah E.A. Leigh Ivonne U.S. Leong Javier F. Lopez Fiona Maleady-Crowe Joanne Mason Ellen M. McDonagh Loukas Moutsianas Michael Mueller Nirupa Murugaesu Anna C. Need Chris A. Odhams Christine Patch Daniel Perez-Gil Dimitris Polychronopoulos John Pullinger Tahrima Rahim Augusto Rendon Pablo Riesgo-Ferreiro Tim Rogers Mina Ryten Kevin Savage Kushmita Sawant Richard H. Scott Afshan Siddiq Alexander Sieghart Damian Smedley Katherine R. Smith Alona Sosinsky William Spooner Helen E. Stevens Alexander Stuckey Razvan Sultana Ellen R.A. Thomas Simon R. Thompson Carolyn Tregidgo Arianna Tucci Emma Walsh Sarah A. Watters Matthew J. Welland
... [+67 authors] ...,
Eleanor Williams
Katarzyna Witkowska
Suzanne M. Wood
Magdalena Zarowiecki

First Published March 10, 2020

Research

Callithrix jacchus genome" > Discovery of a new repeat family in the Callithrix jacchus genome

Miriam K. Konkel
Brygg Ullmer
Erika L. Arceneaux
Sreeja Sanampudi
Sarah A. Brantley
Robert Hubley
Arian F.A. Smit
Mark A. Batzer

First Published February 25, 2016

Method

Alu insertions in diverse human populations" > Mobile element scanning (ME-Scan) identifies thousands of novel Alu insertions in diverse human populations

David J. Witherspoon
Yuhua Zhang
Jinchuan Xing
W. Scott Watkins
Hongseok Ha
Mark A. Batzer
Lynn B. Jorde

First Published April 18, 2013

Research

Maps of open chromatin highlight cell type–restricted patterns of regulatory sequence variation at hematological trait loci

Dirk S. Paul
Cornelis A. Albers
Augusto Rendon
Katrin Voss
Jonathan Stephens
Pim van der Harst
... [+1 authors] ...,
John C. Chambers
Nicole Soranzo
Willem H. Ouwehand
Panos Deloukas

First Published April 9, 2013

Perspective

Reading TE leaves: New approaches to the identification of transposable element insertions

David A. Ray
Mark A. Batzer

First Published June 1, 2011

Research

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

Research

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

Resource

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

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Your search for returned 43 results

Research

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

Research

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

Method

Genomic loci susceptible to systematic sequencing bias in clinical whole genomes

Research

Callithrix jacchus genome" > Discovery of a new repeat family in the Callithrix jacchus genome

Method

Alu insertions in diverse human populations" > Mobile element scanning (ME-Scan) identifies thousands of novel Alu insertions in diverse human populations

Research

Maps of open chromatin highlight cell type–restricted patterns of regulatory sequence variation at hematological trait loci

Perspective

Reading TE leaves: New approaches to the identification of transposable element insertions

Research

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

Research

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

Resource

The completion of the Mammalian Gene Collection (MGC)

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