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Perspective

The impact of long-read sequencing on human population-scale genomics

Tobias Rausch
Tobias Marschall
Jan O. Korbel

First Published April 14, 2025

Resource

An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes

Chong Li
Marc Jan Bonder
Sabriya Syed
Matthew Jensen
Mark B. Gerstein
Michael C. Zody Mark J.P. Chaisson Michael E. Talkowski Tobias Marschall
... [+4 authors] ...,
Jan O. Korbel
Evan E. Eichler
Charles Lee
Xinghua Shi

First Published December 5, 2024

Research

Gaps and complex structurally variant loci in phased genome assemblies

David Porubsky
Mitchell R. Vollger
William T. Harvey
Allison N. Rozanski
Peter Ebert
Glenn Hickey Patrick Hasenfeld Ashley D. Sanders Catherine Stober Jan O. Korbel Benedict Paten Tobias Marschall Evan E. Eichler Haley J. Abel Lucinda L. Antonacci-Fulton Mobin Asri Gunjan Baid Carl A. Baker Anastasiya Belyaeva Konstantinos Billis Guillaume Bourque Silvia Buonaiuto Andrew Carroll Mark J.P. Chaisson Pi-Chuan Chang Xian H. Chang Haoyu Cheng Justin Chu Sarah Cody Vincenza Colonna Daniel E. Cook Robert M. Cook-Deegan Omar E. Cornejo Mark Diekhans Daniel Doerr Peter Ebert Jana Ebler Evan E. Eichler Jordan M. Eizenga Susan Fairley Olivier Fedrigo Adam L. Felsenfeld Xiaowen Feng Christian Fischer Paul Flicek Giulio Formenti Adam Frankish Robert S. Fulton Yan Gao Shilpa Garg Erik Garrison Nanibaa’ A. Garrison Carlos Garcia Giron Richard E. Green Cristian Groza Andrea Guarracino Leanne Haggerty Ira M. Hall William T. Harvey Marina Haukness David Haussler Simon Heumos Glenn Hickey Kendra Hoekzema Thibaut Hourlier Kerstin Howe Miten Jain Erich D. Jarvis Hanlee P. Ji Eimear E. Kenny Barbara A. Koenig Alexey Kolesnikov Jan O. Korbel Jennifer Kordosky Sergey Koren HoJoon Lee Alexandra P. Lewis Heng Li Wen-Wei Liao Shuangjia Lu Tsung-Yu Lu Julian K. Lucas Hugo Magalhães Santiago Marco-Sola Pierre Marijon Charles Markello Tobias Marschall Fergal J. Martin Ann McCartney Jennifer McDaniel Karen H. Miga Matthew W. Mitchell Jean Monlong Jacquelyn Mountcastle Katherine M. Munson Moses Njagi Mwaniki Maria Nattestad Adam M. Novak Sergey Nurk Hugh E. Olsen Nathan D. Olson Benedict Paten Trevor Pesout Adam M. Phillippy Alice B. Popejoy David Porubsky Pjotr Prins Daniela Puiu Mikko Rautiainen Allison A. Regier Arang Rhie Samuel Sacco Ashley D. Sanders Valerie A. Schneider Baergen I. Schultz Kishwar Shafin Jonas A. Sibbesen Jouni Sirén Michael W. Smith Heidi J. Sofia Ahmad N. Abou Tayoun Françoise Thibaud-Nissen Chad Tomlinson Francesca Floriana Tricomi Flavia Villani Mitchell R. Vollger Justin Wagner Brian Walenz
... [+123 authors] ...,
Ting Wang
Jonathan M.D. Wood
Aleksey V. Zimin
Justin M. Zook

First Published May 10, 2023

Resource

A high-resolution map of small-scale inversions in the gibbon genome

Ludovica Mercuri
Donato Palmisano
Alberto L'Abbate
Pietro D'Addabbo
Francesco Montinaro
Claudia Rita Catacchio Patrick Hasenfeld Mario Ventura
... [+3 authors] ...,
Jan O. Korbel
Ashley D. Sanders
Flavia Angela Maria Maggiolini
Francesca Antonacci

First Published September 30, 2022

Research

Somatic structural variant formation is guided by and influences genome architecture

Nikos Sidiropoulos
Balca R. Mardin
F. Germán Rodríguez-González
Ivan D. Bochkov
Shilpa Garg
Adrian M. Stütz
Jan O. Korbel
Erez Lieberman Aiden
Joachim Weischenfeldt

First Published February 17, 2022

Research

Pan-cancer analysis distinguishes transcriptional changes of aneuploidy from proliferation

Christopher Buccitelli
Lorena Salgueiro
Konstantina Rowald
Rocio Sotillo
Balca R. Mardin
Jan O. Korbel

First Published March 20, 2017

Corrigendum

Corrigendum: Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells

Young Seok Ju
Jose M.C. Tubio
William Mifsud
Beiyuan Fu
Helen R. Davies
Manasa Ramakrishna Yilong Li Lucy Yates Gunes Gundem Patrick S. Tarpey Sam Behjati Elli Papaemmanuil Sancha Martin Anthony Fullam Moritz Gerstung Jyoti Nangalia Anthony R. Green Carlos Caldas Åke Borg Andrew Tutt Ming Ta Michael Lee Laura J. van't Veer Benita K.T. Tan Samuel Aparicio Paul N. Span John W.M. Martens Stian Knappskog Anne Vincent-Salomon Anne-Lise Børresen-Dale Jórunn Erla Eyfjörd Ola Myklebost Adrienne M. Flanagan Christopher Foster David E. Neal Colin Cooper Rosalind Eeles G. Steven Bova Sunil R. Lakhani Christine Desmedt Gilles Thomas Andrea L. Richardson Colin A. Purdie Alastair M. Thompson Ultan McDermott
... [+39 authors] ...,
Fengtang Yang
Serena Nik-Zainal
Peter J. Campbell
Michael R. Stratton

First Published May 2, 2016

Resource

The pig X and Y Chromosomes: structure, sequence, and evolution

Benjamin M. Skinner
Carole A. Sargent
Carol Churcher
Toby Hunt
Javier Herrero
Jane E. Loveland Matt Dunn Sandra Louzada Beiyuan Fu William Chow James Gilbert Siobhan Austin-Guest Kathryn Beal Denise Carvalho-Silva William Cheng Daria Gordon Darren Grafham Matt Hardy Jo Harley Heidi Hauser Philip Howden Kerstin Howe Kim Lachani Peter J.I. Ellis Daniel Kelly Giselle Kerry James Kerwin Bee Ling Ng Glen Threadgold Thomas Wileman Jonathan M.D. Wood
... [+26 authors] ...,
Fengtang Yang
Jen Harrow
Nabeel A. Affara
Chris Tyler-Smith

First Published November 11, 2015

Research

Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells

Young Seok Ju
Jose M.C. Tubio
William Mifsud
Beiyuan Fu
Helen R. Davies
Manasa Ramakrishna Yilong Li Lucy Yates Gunes Gundem Patrick S. Tarpey Sam Behjati Elli Papaemmanuil Sancha Martin Anthony Fullam Moritz Gerstung Jyoti Nangalia Anthony R. Green Carlos Caldas Åke Borg Andrew Tutt Ming Ta Michael Lee Laura J. van't Veer Benita K.T. Tan Samuel Aparicio Paul N. Span John W.M. Martens Stian Knappskog Anne Vincent-Salomon Anne-Lise Børresen-Dale Jórunn Erla Eyfjörd Ola Myklebost Adrienne M. Flanagan Christopher Foster David E. Neal Colin Cooper Rosalind Eeles G. Steven Bova Sunil R. Lakhani Christine Desmedt Gilles Thomas Andrea L. Richardson Colin A. Purdie Alastair M. Thompson Ultan McDermott
... [+39 authors] ...,
Fengtang Yang
Serena Nik-Zainal
Peter J. Campbell
Michael R. Stratton

First Published May 11, 2015

Resource

Drosophila melanogaster Genetic Reference Panel lines" > Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines

Wen Huang
Andreas Massouras
Yutaka Inoue
Jason Peiffer
Miquel Ràmia
Aaron M. Tarone Lavanya Turlapati Thomas Zichner Dianhui Zhu Richard F. Lyman Michael M. Magwire Kerstin Blankenburg Mary Anna Carbone Kyle Chang Lisa L. Ellis Sonia Fernandez Yi Han Gareth Highnam Carl E. Hjelmen John R. Jack Mehwish Javaid Joy Jayaseelan Divya Kalra Sandy Lee Lora Lewis Mala Munidasa Fiona Ongeri Shohba Patel Lora Perales Agapito Perez LingLing Pu Stephanie M. Rollmann Robert Ruth Nehad Saada Crystal Warner Aneisa Williams Yuan-Qing Wu Akihiko Yamamoto Yiqing Zhang Yiming Zhu Robert R.H. Anholt Jan O. Korbel David Mittelman Donna M. Muzny Richard A. Gibbs Antonio Barbadilla J. Spencer Johnston
... [+42 authors] ...,
Eric A. Stone
Stephen Richards
Bart Deplancke
Trudy F.C. Mackay

First Published April 8, 2014

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Your search for returned 38 results

Perspective

The impact of long-read sequencing on human population-scale genomics

Resource

An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes

Research

Gaps and complex structurally variant loci in phased genome assemblies

Resource

A high-resolution map of small-scale inversions in the gibbon genome

Research

Somatic structural variant formation is guided by and influences genome architecture

Research

Pan-cancer analysis distinguishes transcriptional changes of aneuploidy from proliferation

Corrigendum

Corrigendum: Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells

Resource

The pig X and Y Chromosomes: structure, sequence, and evolution

Research

Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells

Resource

Drosophila melanogaster Genetic Reference Panel lines" > Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines

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