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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
Research

Callithrix jacchus genome" > Discovery of a new repeat family in the Callithrix jacchus genome

  • Miriam K. Konkel
  • Brygg Ullmer
  • Erika L. Arceneaux
  • Sreeja Sanampudi
  • Sarah A. Brantley
  • Robert Hubley
  • Arian F.A. Smit
  • Mark A. Batzer
  • First Published February 25, 2016
Method

Alu insertions in diverse human populations" > Mobile element scanning (ME-Scan) identifies thousands of novel Alu insertions in diverse human populations

  • David J. Witherspoon
  • Yuhua Zhang
  • Jinchuan Xing
  • W. Scott Watkins
  • Hongseok Ha
  • Mark A. Batzer
  • Lynn B. Jorde
  • First Published April 18, 2013
Perspective

Reading TE leaves: New approaches to the identification of transposable element insertions

  • David A. Ray
  • Mark A. Batzer
  • First Published June 1, 2011
Letter

5′-Transducing SVA retrotransposon groups spread efficiently throughout the human genome

  • Annette Damert
  • Julija Raiz
  • Axel V. Horn
  • Johannes Löwer
  • Hui Wang
  • Jinchuan Xing
  • Mark A. Batzer
  • Roswitha Löwer
  • Gerald G. Schumann
  • First Published August 3, 2009
Letter

Mobile elements create structural variation: Analysis of a complete human genome

  • Jinchuan Xing
  • Yuhua Zhang
  • Kyudong Han
  • Abdel Halim Salem
  • Shurjo K. Sen
  • Chad D. Huff Qiong Zhou
  • ... [+2 authors] ...,
  • Ewen F. Kirkness
  • Samuel Levy
  • Mark A. Batzer
  • Lynn B. Jorde
  • First Published May 13, 2009
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
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