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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

Accurate sequencing of DNA motifs able to form alternative (non-B) structures

  • Matthias H. Weissensteiner
  • Marzia A. Cremona
  • Wilfried M. Guiblet
  • Nicholas Stoler
  • Robert S. Harris
  • Monika Cechova
  • ... [+1 authors] ...,
  • Kristin A. Eckert
  • Francesca Chiaromonte
  • Yi-Fei Huang
  • Kateryna D. Makova
  • First Published July 11, 2023
Research

Selection and thermostability suggest G-quadruplexes are novel functional elements of the human genome

  • Wilfried M. Guiblet
  • Michael DeGiorgio
  • Xiaoheng Cheng
  • Francesca Chiaromonte
  • Kristin A. Eckert
  • Yi-Fei Huang
  • Kateryna D. Makova
  • First Published June 29, 2021
Research

Long-read sequencing technology indicates genome-wide effects of non-B DNA on polymerization speed and error rate

  • Wilfried M. Guiblet
  • Marzia A. Cremona
  • Monika Cechova
  • Robert S. Harris
  • Iva Kejnovská
  • Eduard Kejnovsky
  • Kristin Eckert
  • Francesca Chiaromonte
  • Kateryna D. Makova
  • First Published November 6, 2018
Research

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

  • Konstantin Popadin
  • Stephan Peischl
  • Marco Garieri
  • M. Reza Sailani
  • Audrey Letourneau
  • Federico Santoni Samuel W. Lukowski Georgii A. Bazykin Sergey Nikolaev
  • ... [+4 authors] ...,
  • Diogo Meyer
  • Laurent Excoffier
  • Alexandre Reymond
  • Stylianos E. Antonarakis
  • First Published December 13, 2017
Corrigendum

Corrigendum: A genome-wide analysis of common fragile sites: What features determine chromosomal instability in the human genome?

  • Arkarachai Fungtammasan
  • Erin Walsh
  • Francesca Chiaromonte
  • Kristin A. Eckert
  • Kateryna D. Makova
  • First Published October 3, 2016
Erratum

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies" > BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

  • Guntram Borck
  • Friederike Hög
  • Maria Lisa Dentici
  • Perciliz L. Tan
  • Nadine Sowada
  • Ana Medeira Lucie Gueneau Holger Thiele Maria Kousi Francesca Lepri Larissa Wenzeck Ian Blumenthal Antonio Radicioni Tito Livio Schwarzenberg Barbara Mandriani Rita Fischetto Deborah J. Morris-Rosendahl Janine Altmüller Alexandre Reymond Peter Nürnberg Giuseppe Merla
  • ... [+16 authors] ...,
  • Bruno Dallapiccola
  • Nicholas Katsanis
  • Patrick Cramer
  • Christian Kubisch
  • First Published April 1, 2015
Research

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies" > BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

  • Guntram Borck
  • Friederike Hög
  • Maria Lisa Dentici
  • Perciliz L. Tan
  • Nadine Sowada
  • Ana Medeira Lucie Gueneau Holger Thiele Maria Kousi Francesca Lepri Larissa Wenzeck Ian Blumenthal Antonio Radicioni Tito Livio Schwarzenberg Barbara Mandriani Rita Fischetto Deborah J. Morris-Rosendahl Janine Altmüller Alexandre Reymond Peter Nürnberg Giuseppe Merla
  • ... [+16 authors] ...,
  • Bruno Dallapiccola
  • Nicholas Katsanis
  • Patrick Cramer
  • Christian Kubisch
  • First Published January 5, 2015
Research

Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures

  • Giuliana Giannuzzi
  • Eugenia Migliavacca
  • Alexandre Reymond
  • First Published June 10, 2014
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