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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
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