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Research

T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population

  • Daniel Schmitz
  • Adam Ameur
  • Åsa Johansson
  • First Published September 16, 2025
Research

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

  • Kristine Bilgrav Saether
  • Jesper Eisfeldt
  • Jesse D. Bengtsson
  • Ming Yin Lun
  • Christopher M. Grochowski
  • Medhat Mahmoud Hsiao-Tuan Chao Jill A. Rosenfeld Pengfei Liu Marlene Ek Jakob Schuy Adam Ameur Hongzheng Dai James Paul Hwang Fritz J. Sedlazeck Weimin Bi Ronit Marom
  • ... [+12 authors] ...,
  • Josephine Wincent
  • Ann Nordgren
  • Claudia M.B. Carvalho
  • Anna Lindstrand
  • First Published November 1, 2024
Research

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

  • Jesper Eisfeldt
  • Adam Ameur
  • Felix Lenner
  • Esmee Ten Berk de Boer
  • Marlene Ek
  • Josephine Wincent Raquel Vaz Jesper Ottosson Tord Jonson Sofie Ivarsson Sofia Thunström Alexandra Topa Simon Stenberg Anna Rohlin Anna Sandestig Margareta Nordling Pia Palmebäck Magnus Burstedt Frida Nordin Eva-Lena Stattin Maria Sobol Panagiotis Baliakas Marie-Louise Bondeson Ida Höijer Kristine Bilgrav Saether Lovisa Lovmar
  • ... [+21 authors] ...,
  • Hans Ehrencrona
  • Malin Melin
  • Lars Feuk
  • Anna Lindstrand
  • First Published October 29, 2024
Resource

Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR

  • Wouter De Coster
  • Ida Höijer
  • Inge Bruggeman
  • Svenn D'Hert
  • Malin Melin
  • Adam Ameur
  • Rosa Rademakers
  • First Published August 15, 2024
LETTER

Whole-genome maps of USF1 and USF2 binding and histone H3 acetylation reveal new aspects of promoter structure and candidate genes for common human disorders

  • Alvaro Rada-Iglesias
  • Adam Ameur
  • Philipp Kapranov
  • Stefan Enroth
  • Jan Komorowski
  • Thomas R. Gingeras
  • Claes Wadelius
  • First Published January 29, 2008
ARTICLE

Butyrate mediates decrease of histone acetylation centered on transcription start sites and down-regulation of associated genes

  • Alvaro Rada-Iglesias
  • Stefan Enroth
  • Adam Ameur
  • Christoph M. Koch
  • Gayle K. Clelland
  • Patricia Respuela-Alonso Sarah Wilcox Oliver M. Dovey Peter D. Ellis
  • ... [+4 authors] ...,
  • Cordelia F. Langford
  • Ian Dunham
  • Jan Komorowski
  • Claes Wadelius
  • First Published June 13, 2007
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