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

  • Tobias Rausch
  • Tobias Marschall
  • Jan O. Korbel
  • First Published April 14, 2025

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

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

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

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

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

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

Drosophila melanogaster based on population-scale sequencing" > Impact of genomic structural variation in Drosophila melanogaster based on population-scale sequencing

  • Thomas Zichner
  • David A. Garfield
  • Tobias Rausch
  • Adrian M. Stütz
  • Enrico Cannavó
  • Martina Braun
  • Eileen E.M. Furlong
  • Jan O. Korbel
  • First Published December 6, 2012

Relating CNVs to transcriptome data at fine resolution: Assessment of the effect of variant size, type, and overlap with functional regions

  • Andreas Schlattl
  • Simon Anders
  • Sebastian M. Waszak
  • Wolfgang Huber
  • Jan O. Korbel
  • First Published August 23, 2011

Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history

  • Philip M. Kim
  • Hugo Y.K. Lam
  • Alexander E. Urban
  • Jan O. Korbel
  • Jason Affourtit
  • Fabian Grubert
  • ... [+1 authors] ...,
  • Xueying Chen
  • Sherman Weissman
  • Michael Snyder
  • Mark B. Gerstein
  • First Published October 8, 2008
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