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Research

Estimating genotype error rates from high-coverage next-generation sequence data

  • Jeffrey D. Wall
  • Ling Fung Tang
  • Brandon Zerbe
  • Mark N. Kvale
  • Pui-Yan Kwok
  • Catherine Schaefer
  • Neil Risch
  • First Published October 10, 2014
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
Letter

Human genetic variation recognizes functional elements in noncoding sequence

  • David Lomelin
  • Eric Jorgenson
  • Neil Risch
  • First Published December 23, 2009
LETTER

Functional genomics of membrane transporters in human populations

  • Thomas J. Urban
  • Ronnie Sebro
  • Evan H. Hurowitz
  • Maya K. Leabman
  • Ilaria Badagnani
  • Leah L. Lagpacan
  • Neil Risch
  • Kathleen M. Giacomini
  • First Published December 14, 2005
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

Bayesian Analysis of Haplotypes for Linkage Disequilibrium Mapping

  • Jun S. Liu
  • Chiara Sabatti
  • Jun Teng
  • Bronya J.B. Keats
  • Neil Risch
  • First Published October 1, 2001
METHODS

High-Throughput Genotyping with Single Nucleotide Polymorphisms

  • Koustubh Ranade
  • Mau-Song Chang
  • Chih-Tai Ting
  • Dee Pei
  • Chin-Fu Hsiao
  • Michael Olivier Robert Pesich Joan Hebert Yii-Der I. Chen Victor J. Dzau David Curb
  • ... [+6 authors] ...,
  • Richard Olshen
  • Neil Risch
  • David R. Cox
  • David Botstein
  • First Published June 12, 2001
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