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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
Resource

GenomeVIP: a cloud platform for genomic variant discovery and interpretation

  • R. Jay Mashl
  • Adam D. Scott
  • Kuan-lin Huang
  • Matthew A. Wyczalkowski
  • Christopher J. Yoon
  • Beifang Niu Erin DeNardo Venkata D. Yellapantula Robert E. Handsaker Ken Chen Daniel C. Koboldt Kai Ye
  • ... [+7 authors] ...,
  • David Fenyö
  • Benjamin J. Raphael
  • Michael C. Wendl
  • Li Ding
  • First Published May 18, 2017
Research

Characteristics of de novo structural changes in the human genome

  • Wigard P. Kloosterman
  • Laurent C. Francioli
  • Fereydoun Hormozdiari
  • Tobias Marschall
  • Jayne Y. Hehir-Kwa
  • Abdel Abdellaoui Eric-Wubbo Lameijer Matthijs H. Moed Vyacheslav Koval Ivo Renkens Markus J. van Roosmalen Pascal Arp Lennart C. Karssen Bradley P. Coe Robert E. Handsaker Eka D. Suchiman Edwin Cuppen Djie Tjwan Thung Mitch McVey Michael C. Wendl André Uitterlinden Cornelia M. van Duijn Morris A. Swertz Cisca Wijmenga GertJan B. van Ommen P. Eline Slagboom Dorret I. Boomsma Alexander Schönhuth Evan E. Eichler Paul I.W. de Bakker Kai Ye Victor Guryev André Uitterlinden Cornelia M. van Duijn Morris A. Swertz Cisca Wijmenga GertJan B. van Ommen P. Eline Slagboom Dorret I. Boomsma Alexander Schönhuth
  • ... [+35 authors] ...,
  • Evan E. Eichler
  • Paul I.W. de Bakker
  • Kai Ye
  • Victor Guryev
  • First Published April 16, 2015
Resource

MuSiC: Identifying mutational significance in cancer genomes

  • Nathan D. Dees
  • Qunyuan Zhang
  • Cyriac Kandoth
  • Michael C. Wendl
  • William Schierding
  • Daniel C. Koboldt Thomas B. Mooney Matthew B. Callaway
  • ... [+3 authors] ...,
  • David Dooling
  • Elaine R. Mardis
  • Richard K. Wilson
  • Li Ding
  • First Published July 3, 2012
RESOURCE

PolyScan: An automatic indel and SNP detection approach to the analysis of human resequencing data

  • Ken Chen
  • Michael D. McLellan
  • Li Ding
  • Michael C. Wendl
  • Yumi Kasai
  • Richard K. Wilson
  • Elaine R. Mardis
  • First Published April 6, 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
METHODS

Generalized Gap Model for Bacterial Artificial Chromosome Clone Fingerprint Mapping and Shotgun Sequencing

  • Michael C. Wendl
  • Robert H. Waterston
  • First Published December 1, 2002
METHODS

Theories and Applications for Sequencing Randomly Selected Clones

  • Michael C. Wendl
  • Marco A. Marra
  • LaDeana W. Hillier
  • Asif T. Chinwalla
  • Richard K. Wilson
  • Robert H. Waterston
  • First Published January 18, 2001
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