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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

otter" > Characterizing tandem repeat complexities across long-read sequencing platforms with TREAT and otter

  • Niccoló Tesi
  • Alex Salazar
  • Yaran Zhang
  • Sven van der Lee
  • Marc Hulsman
  • Lydian Knoop Sanduni Wijesekera Jana Krizova Anne-Fleur Schneider Maartje Pennings
  • ... [+5 authors] ...,
  • Kristel Sleegers
  • Erik-Jan Kamsteeg
  • Marcel Reinders
  • Henne Holstege
  • First Published October 15, 2024

High-resolution structural genomics reveals new therapeutic vulnerabilities in glioblastoma

  • Michael J. Johnston
  • Ana Nikolic
  • Nicoletta Ninkovic
  • Paul Guilhamon
  • Florence M.G. Cavalli
  • Steven Seaman Franz J. Zemp John Lee Aly Abdelkareem Katrina Ellestad Alex Murison Michelle M. Kushida Fiona J. Coutinho Yussanne Ma Andrew J. Mungall Richard Moore Marco A. Marra Michael D. Taylor Peter B. Dirks Trevor J. Pugh Sorana Morrissy
  • ... [+16 authors] ...,
  • Bradley St Croix
  • Douglas J. Mahoney
  • Mathieu Lupien
  • Marco Gallo
  • First Published June 27, 2019

TITAN: inference of copy number architectures in clonal cell populations from tumor whole-genome sequence data

  • Gavin Ha
  • Andrew Roth
  • Jaswinder Khattra
  • Julie Ho
  • Damian Yap
  • Leah M. Prentice Nataliya Melnyk Andrew McPherson Ali Bashashati Emma Laks Justina Biele Jiarui Ding Alan Le Jamie Rosner Karey Shumansky Marco A. Marra C. Blake Gilks
  • ... [+12 authors] ...,
  • David G. Huntsman
  • Jessica N. McAlpine
  • Samuel Aparicio
  • Sohrab P. Shah
  • First Published July 24, 2014

Functional DNA methylation differences between tissues, cell types, and across individuals discovered using the M&M algorithm

  • Bo Zhang
  • Yan Zhou
  • Nan Lin
  • Rebecca F. Lowdon
  • Chibo Hong
  • Raman P. Nagarajan Jeffrey B. Cheng Daofeng Li Michael Stevens Hyung Joo Lee Xiaoyun Xing Jia Zhou Vasavi Sundaram GiNell Elliott Junchen Gu Taoping Shi Philippe Gascard Mahvash Sigaroudinia Thea D. Tlsty Theresa Kadlecek Arthur Weiss Henriette O’Geen Peggy J. Farnham Cécile L. Maire Keith L. Ligon Pamela A.F. Madden Angela Tam Richard Moore Martin Hirst
  • ... [+24 authors] ...,
  • Marco A. Marra
  • Baoxue Zhang
  • Joseph F. Costello
  • Ting Wang
  • First Published June 26, 2013

Estimating absolute methylation levels at single-CpG resolution from methylation enrichment and restriction enzyme sequencing methods

  • Michael Stevens
  • Jeffrey B. Cheng
  • Daofeng Li
  • Mingchao Xie
  • Chibo Hong
  • Cécile L. Maire Keith L. Ligon
  • ... [+2 authors] ...,
  • Martin Hirst
  • Marco A. Marra
  • Joseph F. Costello
  • Ting Wang
  • First Published June 26, 2013

Constitutive nuclear lamina–genome interactions are highly conserved and associated with A/T-rich sequence

  • Wouter Meuleman
  • Daan Peric-Hupkes
  • Jop Kind
  • Jean-Bernard Beaudry
  • Ludo Pagie
  • Manolis Kellis
  • Marcel Reinders
  • Lodewyk Wessels
  • Bas van Steensel
  • First Published November 2, 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

Integrative analysis of genome-wide loss of heterozygosity and monoallelic expression at nucleotide resolution reveals disrupted pathways in triple-negative breast cancer

  • Gavin Ha
  • Andrew Roth
  • Daniel Lai
  • Ali Bashashati
  • Jiarui Ding
  • Rodrigo Goya Ryan Giuliany Jamie Rosner Arusha Oloumi Karey Shumansky Suet-Feung Chin Gulisa Turashvili Martin Hirst
  • ... [+8 authors] ...,
  • Carlos Caldas
  • Marco A. Marra
  • Samuel Aparicio
  • Sohrab P. Shah
  • First Published May 25, 2012
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