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Research

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

  • Joanna Kaplanis
  • Nadia Akawi
  • Giuseppe Gallone
  • Jeremy F. McRae
  • Elena Prigmore
  • Caroline F. Wright
  • ... [+1 authors] ...,
  • David R. Fitzpatrick
  • Helen V. Firth
  • Jeffrey C. Barrett
  • Matthew E. Hurles
  • First Published June 21, 2019
Research

Pathogenicity and selective constraint on variation near splice sites

  • Jenny Lord
  • Giuseppe Gallone
  • Patrick J. Short
  • Jeremy F. McRae
  • Holly Ironfield
  • Elizabeth H. Wynn Sebastian S. Gerety Liu He Bronwyn Kerr Diana S. Johnson Emma McCann Esther Kinning Frances Flinter I. Karen Temple Jill Clayton-Smith Meriel McEntagart Sally Ann Lynch Shelagh Joss Sofia Douzgou Tabib Dabir Virginia Clowes Vivienne P.M. McConnell Wayne Lam Caroline F. Wright
  • ... [+19 authors] ...,
  • David R. FitzPatrick
  • Helen V. Firth
  • Jeffrey C. Barrett
  • Matthew E. Hurles
  • First Published December 26, 2018
Method

Detection of structural mosaicism from targeted and whole-genome sequencing data

  • Daniel A. King
  • Alejandro Sifrim
  • Tomas W. Fitzgerald
  • Raheleh Rahbari
  • Emma Hobson
  • Tessa Homfray Sahar Mansour Sarju G. Mehta
  • ... [+3 authors] ...,
  • Mohammed Shehla
  • Susan E. Tomkins
  • Pradeep C. Vasudevan
  • Matthew E. Hurles
  • First Published August 30, 2017
Method

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

  • Daniel A. King
  • Tomas W. Fitzgerald
  • Ray Miller
  • Natalie Canham
  • Jill Clayton-Smith
  • Diana Johnson
  • ... [+1 authors] ...,
  • Sahar Mansour
  • Fiona Stewart
  • Pradeep Vasudevan
  • Matthew E. Hurles
  • First Published December 19, 2013
Research

Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome

  • Aaron R. Quinlan
  • Royden A. Clark
  • Svetlana Sokolova
  • Mitchell L. Leibowitz
  • Yujun Zhang
  • Matthew E. Hurles
  • Joshua C. Mell
  • Ira M. Hall
  • First Published March 22, 2010
ARTICLE

Copy number variation and evolution in humans and chimpanzees

  • George H. Perry
  • Fengtang Yang
  • Tomas Marques-Bonet
  • Carly Murphy
  • Tomas Fitzgerald
  • Arthur S. Lee Courtney Hyland Anne C. Stone Matthew E. Hurles Chris Tyler-Smith
  • ... [+5 authors] ...,
  • Evan E. Eichler
  • Nigel P. Carter
  • Charles Lee
  • Richard Redon
  • First Published September 4, 2008
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