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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
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
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

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

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

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
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