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Method

Detection of long repeat expansions from PCR-free whole-genome sequence data

  • Egor Dolzhenko
  • Joke J.F.A. van Vugt
  • Richard J. Shaw
  • Mitchell A. Bekritsky
  • Marka van Blitterswijk
  • Giuseppe Narzisi Subramanian S. Ajay Vani Rajan Bryan R. Lajoie Nathan H. Johnson Zoya Kingsbury Sean J. Humphray Raymond D. Schellevis William J. Brands Matt Baker Rosa Rademakers Maarten Kooyman Gijs H.P. Tazelaar Michael A. van Es Russell McLaughlin William Sproviero Aleksey Shatunov Ashley Jones Ahmad Al Khleifat Alan Pittman Sarah Morgan Orla Hardiman Ammar Al-Chalabi Chris Shaw Bradley Smith Edmund J. Neo Karen Morrison Pamela J. Shaw Catherine Reeves Lara Winterkorn Nancy S. Wexler David E. Housman Christopher W. Ng Alina L. Li Ryan J. Taft
  • ... [+35 authors] ...,
  • Leonard H. van den Berg
  • David R. Bentley
  • Jan H. Veldink
  • Michael A. Eberle
  • First Published September 8, 2017
Resource

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

  • Michael A. Eberle
  • Epameinondas Fritzilas
  • Peter Krusche
  • Morten Källberg
  • Benjamin L. Moore
  • Mitchell A. Bekritsky Zamin Iqbal Han-Yu Chuang Sean J. Humphray Aaron L. Halpern
  • ... [+5 authors] ...,
  • Semyon Kruglyak
  • Elliott H. Margulies
  • Gil McVean
  • David R. Bentley
  • First Published November 30, 2016
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
Chicken Special/Resources

Transcriptome analysis for the chicken based on 19,626 finished cDNA sequences and 485,337 expressed sequence tags

  • Simon J. Hubbard
  • Darren V. Grafham
  • Kevin J. Beattie
  • Ian M. Overton
  • Stuart R. McLaren
  • Michael D.R. Croning Paul E. Boardman James K. Bonfield Joan Burnside Robert M. Davies Elizabeth R. Farrell Matthew D. Francis Sam Griffiths-Jones Sean J. Humphray Christopher Hyland Carol E. Scott Haizhou Tang Ruth G. Taylor Cheryll Tickle
  • ... [+14 authors] ...,
  • William R.A. Brown
  • Ewan Birney
  • Jane Rogers
  • Stuart A. Wilson
  • First Published December 8, 2004
RESOURCE

Complete MHC Haplotype Sequencing for Common Disease Gene Mapping

  • C. Andrew Stewart
  • Roger Horton
  • Richard J.N. Allcock
  • Jennifer L. Ashurst
  • Alexey M. Atrazhev
  • Penny Coggill Ian Dunham Simon Forbes Karen Halls Joanna M.M. Howson Sean J. Humphray Sarah Hunt Andrew J. Mungall Kazutoyo Osoegawa Sophie Palmer Anne N. Roberts Jane Rogers Sarah Sims Yu Wang Laurens G. Wilming John F. Elliott Pieter J. de Jong
  • ... [+17 authors] ...,
  • Stephen Sawcer
  • John A. Todd
  • John Trowsdale
  • Stephan Beck
  • First Published May 12, 2004
LETTER

Physical Map of Human 6p21.2–6p21.3: Region Flanking the Centromeric End of the Major Histocompatibility Complex

  • Nicos Tripodis
  • Ruth Mason
  • Sean J. Humphray
  • Angela F. Davies
  • Jethro A. Herberg
  • John Trowsdale
  • Dean Nizetic
  • Gabriele Senger
  • Jiannis Ragoussis
  • First Published June 1, 1998
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