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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
Method

DNA copy number analysis of fresh and formalin-fixed specimens by shallow whole-genome sequencing with identification and exclusion of problematic regions in the genome assembly

  • Ilari Scheinin
  • Daoud Sie
  • Henrik Bengtsson
  • Mark A. van de Wiel
  • Adam B. Olshen
  • Hinke F. van Thuijl Hendrik F. van Essen Paul P. Eijk François Rustenburg Gerrit A. Meijer Jaap C. Reijneveld
  • ... [+6 authors] ...,
  • Pieter Wesseling
  • Daniel Pinkel
  • Donna G. Albertson
  • Bauke Ylstra
  • First Published September 18, 2014
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
Methods

Mapping segmental and sequence variations among laboratory mice using BAC array CGH

  • Antoine M. Snijders
  • Norma J. Nowak
  • Bing Huey
  • Jane Fridlyand
  • Sindy Law
  • Jeffrey Conroy Taku Tokuyasu Kubilay Demir Readman Chiu Jian-Hua Mao Ajay N. Jain
  • ... [+6 authors] ...,
  • Steven J.M. Jones
  • Allan Balmain
  • Daniel Pinkel
  • Donna G. Albertson
  • First Published February 1, 2005
ARTICLE

Large-Scale Variation Among Human and Great Ape Genomes Determined by Array Comparative Genomic Hybridization

  • Devin P. Locke
  • Richard Segraves
  • Lucia Carbone
  • Nicoletta Archidiacono
  • Donna G. Albertson
  • Daniel Pinkel
  • Evan E. Eichler
  • First Published March 1, 2003
METHODS

Whole Genome Analysis of Genetic Alterations in Small DNA Samples Using Hyperbranched Strand Displacement Amplification and Array–CGH

  • José M. Lage
  • John H. Leamon
  • Tanja Pejovic
  • Stefan Hamann
  • Michelle Lacey
  • Deborah Dillon Richard Segraves Bettina Vossbrinck Antonio González
  • ... [+4 authors] ...,
  • Daniel Pinkel
  • Donna G. Albertson
  • Jose Costa
  • Paul M. Lizardi
  • First Published February 1, 2003
METHODS

Fully Automatic Quantification of Microarray Image Data

  • Ajay N. Jain
  • Taku A. Tokuyasu
  • Antoine M. Snijders
  • Richard Segraves
  • Donna G. Albertson
  • Daniel Pinkel
  • First Published February 1, 2002
METHODS

Robust and Accurate Single Nucleotide Polymorphism Genotyping by Dynamic Allele-Specific Hybridization (DASH): Design Criteria and Assay Validation

  • Jonathan A. Prince
  • Lars Feuk
  • W. Mathias Howell
  • Magnus Jobs
  • Tesfai Emahazion
  • Kaj Blennow
  • Anthony J. Brookes
  • First Published January 1, 2001
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