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Research

Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing

  • Jesper Eisfeldt
  • Edward J. Higginbotham
  • Felix Lenner
  • Jennifer Howe
  • Bridget A. Fernandez
  • Anna Lindstrand
  • Stephen W. Scherer
  • Lars Feuk
  • First Published October 29, 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
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

Monodelphis domestica" > Evolutionary dynamics of transposable elements in the short-tailed opossum Monodelphis domestica

  • Andrew J. Gentles
  • Matthew J. Wakefield
  • Oleksiy Kohany
  • Wanjun Gu
  • Mark A. Batzer
  • David D. Pollock
  • Jerzy Jurka
  • First Published May 10, 2007
Methods

Accurate and reliable high-throughput detection of copy number variation in the human genome

  • Heike Fiegler
  • Richard Redon
  • Dan Andrews
  • Carol Scott
  • Robert Andrews
  • Carol Carder Richard Clark Oliver Dovey Peter Ellis Lars Feuk Lisa French Paul Hunt Dimitrios Kalaitzopoulos James Larkin Lyndal Montgomery George H. Perry Bob W. Plumb Keith Porter Rachel E. Rigby Diane Rigler Armand Valsesia Cordelia Langford Sean J. Humphray
  • ... [+18 authors] ...,
  • Stephen W. Scherer
  • Charles Lee
  • Matthew E. Hurles
  • Nigel P. Carter
  • First Published November 22, 2006
REVIEW

Copy number variation: New insights in genome diversity

  • Jennifer L. Freeman
  • George H. Perry
  • Lars Feuk
  • Richard Redon
  • Steven A. McCarroll
  • David M. Altshuler Hiroyuki Aburatani Keith W. Jones Chris Tyler-Smith
  • ... [+4 authors] ...,
  • Matthew E. Hurles
  • Nigel P. Carter
  • Stephen W. Scherer
  • Charles Lee
  • First Published June 29, 2006
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