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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

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

Deficiency of nucleotide excision repair is associated with mutational signature observed in cancer

  • Myrthe Jager
  • Francis Blokzijl
  • Ewart Kuijk
  • Johanna Bertl
  • Maria Vougioukalaki
  • Roel Janssen Nicolle Besselink Sander Boymans Joep de Ligt Jakob Skou Pedersen
  • ... [+5 authors] ...,
  • Jan Hoeijmakers
  • Joris Pothof
  • Ruben van Boxtel
  • Edwin Cuppen
  • First Published June 20, 2019

Characteristics of de novo structural changes in the human genome

  • Wigard P. Kloosterman
  • Laurent C. Francioli
  • Fereydoun Hormozdiari
  • Tobias Marschall
  • Jayne Y. Hehir-Kwa
  • Abdel Abdellaoui Eric-Wubbo Lameijer Matthijs H. Moed Vyacheslav Koval Ivo Renkens Markus J. van Roosmalen Pascal Arp Lennart C. Karssen Bradley P. Coe Robert E. Handsaker Eka D. Suchiman Edwin Cuppen Djie Tjwan Thung Mitch McVey Michael C. Wendl André Uitterlinden Cornelia M. van Duijn Morris A. Swertz Cisca Wijmenga GertJan B. van Ommen P. Eline Slagboom Dorret I. Boomsma Alexander Schönhuth Evan E. Eichler Paul I.W. de Bakker Kai Ye Victor Guryev André Uitterlinden Cornelia M. van Duijn Morris A. Swertz Cisca Wijmenga GertJan B. van Ommen P. Eline Slagboom Dorret I. Boomsma Alexander Schönhuth
  • ... [+35 authors] ...,
  • Evan E. Eichler
  • Paul I.W. de Bakker
  • Kai Ye
  • Victor Guryev
  • First Published April 16, 2015

Natural variation of histone modification and its impact on gene expression in the rat genome

  • Carola Rintisch
  • Matthias Heinig
  • Anja Bauerfeind
  • Sebastian Schafer
  • Christin Mieth
  • Giannino Patone Oliver Hummel Wei Chen Stuart Cook Edwin Cuppen Maria Colomé-Tatché Frank Johannes Ritsert C. Jansen Helen Neil
  • ... [+9 authors] ...,
  • Michel Werner
  • Michal Pravenec
  • Martin Vingron
  • Norbert Hubner
  • First Published May 2, 2014

Genomic and transcriptomic plasticity in treatment-naïve ovarian cancer

  • Marlous Hoogstraat
  • Mirjam S. de Pagter
  • Geert A. Cirkel
  • Markus J. van Roosmalen
  • Timothy T. Harkins
  • Karen Duran Jennifer Kreeftmeijer Ivo Renkens Petronella O. Witteveen Clarence C. Lee Isaac J. Nijman Tanisha Guy Ruben van ’t Slot Trudy N. Jonges Martijn P. Lolkema Marco J. Koudijs
  • ... [+11 authors] ...,
  • Ronald P. Zweemer
  • Emile E. Voest
  • Edwin Cuppen
  • Wigard P. Kloosterman
  • First Published November 12, 2013

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

High-throughput semiquantitative analysis of insertional mutations in heterogeneous tumors

  • Marco J. Koudijs
  • Christiaan Klijn
  • Louise van der Weyden
  • Jaap Kool
  • Jelle ten Hoeve
  • Daoud Sie Pramudita R. Prasetyanti Eva Schut Sjors Kas Theodore Whipp
  • ... [+5 authors] ...,
  • Edwin Cuppen
  • Lodewyk Wessels
  • David J. Adams
  • Jos Jonkers
  • First Published August 18, 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
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