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Method

Genomic loci susceptible to systematic sequencing bias in clinical whole genomes

  • Timothy M. Freeman
  • Dennis Wang
  • Jason Harris
  • John C. Ambrose
  • Prabhu Arumugam
  • Emma L. Baple Marta Bleda Freya Boardman-Pretty Jeanne M. Boissiere Christopher R. Boustred Mark J. Caulfield Georgia C. Chan Clare E.H. Craig Louise C. Daugherty Anna de Burca Andrew Devereau Greg Elgar Rebecca E. Foulger Tom Fowler Pedro Furió-Tarí Joanne M. Hackett Dina Halai Angela Hamblin Shirley Henderson James E. Holman Tim J.P. Hubbard Kristina Ibáñez Rob Jackson Louise J. Jones Dalia Kasperaviciute Melis Kayikci Lea Lahnstein Kay Lawson Sarah E.A. Leigh Ivonne U.S. Leong Javier F. Lopez Fiona Maleady-Crowe Joanne Mason Ellen M. McDonagh Loukas Moutsianas Michael Mueller Nirupa Murugaesu Anna C. Need Chris A. Odhams Christine Patch Daniel Perez-Gil Dimitris Polychronopoulos John Pullinger Tahrima Rahim Augusto Rendon Pablo Riesgo-Ferreiro Tim Rogers Mina Ryten Kevin Savage Kushmita Sawant Richard H. Scott Afshan Siddiq Alexander Sieghart Damian Smedley Katherine R. Smith Alona Sosinsky William Spooner Helen E. Stevens Alexander Stuckey Razvan Sultana Ellen R.A. Thomas Simon R. Thompson Carolyn Tregidgo Arianna Tucci Emma Walsh Sarah A. Watters Matthew J. Welland
  • ... [+67 authors] ...,
  • Eleanor Williams
  • Katarzyna Witkowska
  • Suzanne M. Wood
  • Magdalena Zarowiecki
  • First Published March 10, 2020
Resource

Improved exome prioritization of disease genes through cross-species phenotype comparison

  • Peter N. Robinson
  • Sebastian Köhler
  • Anika Oellrich
  • Kai Wang
  • Christopher J. Mungall
  • Suzanna E. Lewis Nicole Washington Sebastian Bauer Dominik Seelow
  • ... [+4 authors] ...,
  • Peter Krawitz
  • Christian Gilissen
  • Melissa Haendel
  • Damian Smedley
  • First Published October 25, 2013
RESOURCE

An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs)

  • Vardhman K. Rakyan
  • Thomas A. Down
  • Natalie P. Thorne
  • Paul Flicek
  • Eugene Kulesha
  • Stefan Gräf Eleni M. Tomazou Liselotte Bäckdahl Nathan Johnson Marlis Herberth Kevin L. Howe David K. Jackson Marcos M. Miretti Heike Fiegler John C. Marioni Ewan Birney
  • ... [+11 authors] ...,
  • Tim J.P. Hubbard
  • Nigel P. Carter
  • Simon Tavaré
  • Stephan Beck
  • First Published June 24, 2008
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
ENSEMBL Special

An Overview of Ensembl

  • Ewan Birney
  • T. Daniel Andrews
  • Paul Bevan
  • Mario Caccamo
  • Yuan Chen
  • Laura Clarke Guy Coates James Cuff Val Curwen Tim Cutts Thomas Down Eduardo Eyras Xose M. Fernandez-Suarez Paul Gane Brian Gibbins James Gilbert Martin Hammond Hans-Rudolf Hotz Vivek Iyer Kerstin Jekosch Andreas Kahari Arek Kasprzyk Damian Keefe Stephen Keenan Heikki Lehvaslaiho Graham McVicker Craig Melsopp Patrick Meidl Emmanuel Mongin Roger Pettett Simon Potter Glenn Proctor Mark Rae Steve Searle Guy Slater Damian Smedley James Smith Will Spooner Arne Stabenau James Stalker Roy Storey Abel Ureta-Vidal K. Cara Woodwark Graham Cameron
  • ... [+39 authors] ...,
  • Richard Durbin
  • Anthony Cox
  • Tim Hubbard
  • Michele Clamp
  • First Published April 12, 2004
RESOURCE

A Whole-Genome Mouse BAC Microarray With 1-Mb Resolution for Analysis of DNA Copy Number Changes by Array Comparative Genomic Hybridization

  • Yeun-Jun Chung
  • Jos Jonkers
  • Hannah Kitson
  • Heike Fiegler
  • Sean Humphray
  • Carol Scott Sarah Hunt Yuejin Yu Ichiko Nishijima
  • ... [+4 authors] ...,
  • Arno Velds
  • Henne Holstege
  • Nigel Carter
  • Allan Bradley
  • First Published January 5, 2004
RESOURCE

EnsMart: A Generic System for Fast and Flexible Access to Biological Data

  • Arek Kasprzyk
  • Damian Keefe
  • Damian Smedley
  • Darin London
  • William Spooner
  • Craig Melsopp
  • ... [+1 authors] ...,
  • Martin Hammond
  • Philippe Rocca-Serra
  • Tony Cox
  • Ewan Birney
  • First Published January 5, 2004
RESOURCE

GANESH: Software for Customized Annotation of Genome Regions

  • Derek Huntley
  • Holger Hummerich
  • Damian Smedley
  • Sasivimol Kittivoravitkul
  • Mark McCarthy
  • Peter Little
  • Marek Sergot
  • First Published September 2, 2003
RESOURCE

eVOC: A Controlled Vocabulary for Unifying Gene Expression Data

  • Janet Kelso
  • Johann Visagie
  • Gregory Theiler
  • Alan Christoffels
  • Soraya Bardien
  • Damian Smedley Darren Otgaar Gary Greyling
  • ... [+3 authors] ...,
  • C. Victor Jongeneel
  • Mark I. McCarthy
  • Tania Hide
  • Winston Hide
  • First Published June 1, 2003
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