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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
Method

Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome

  • Cédric Howald
  • Andrea Tanzer
  • Jacqueline Chrast
  • Felix Kokocinski
  • Thomas Derrien
  • Nathalie Walters Jose M. Gonzalez Adam Frankish Bronwen L. Aken Thibaut Hourlier Jan-Hinnerk Vogel Simon White Stephen Searle
  • ... [+8 authors] ...,
  • Jennifer Harrow
  • Tim J. Hubbard
  • Roderic Guigó
  • Alexandre Reymond
  • First Published September 5, 2012
Method

Estimation of alternative splicing variability in human populations

  • Mar Gonzàlez-Porta
  • Miquel Calvo
  • Michael Sammeth
  • Roderic Guigó
  • First Published November 23, 2011
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