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Research

The 22q11 low copy repeats are characterized by unprecedented size and structural variability

  • Wolfram Demaerel
  • Yulia Mostovoy
  • Feyza Yilmaz
  • Lisanne Vervoort
  • Steven Pastor
  • Matthew S. Hestand Ann Swillen Elfi Vergaelen Elizabeth A. Geiger Curtis R. Coughlin Stephen K. Chow Donna McDonald-McGinn Bernice Morrow Pui-Yan Kwok
  • ... [+9 authors] ...,
  • Ming Xiao
  • Beverly S. Emanuel
  • Tamim H. Shaikh
  • Joris R. Vermeesch
  • First Published September 3, 2019
Method

High-throughput single-molecule telomere characterization

  • Jennifer McCaffrey
  • Eleanor Young
  • Katy Lassahn
  • Justin Sibert
  • Steven Pastor
  • Harold Riethman
  • Ming Xiao
  • First Published October 12, 2017
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

Role of Excess Inorganic Pyrophosphate in Primer-Extension Genotyping Assays

  • Ming Xiao
  • Angie Phong
  • Kristen L. Lum
  • Richard A. Greene
  • Philip R. Buzby
  • Pui-Yan Kwok
  • First Published August 12, 2004
METHODS

DNA Analysis by Fluorescence Quenching Detection

  • Ming Xiao
  • Pui-Yan Kwok
  • First Published May 1, 2003
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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