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Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

  • Author(s): Sanders, Stephan
  • Collins, RL
  • Brand, H
  • Redin, CE
  • Hanscom, C
  • Antolik, C
  • Stone, MR
  • Glessner, JT
  • Mason, T
  • Pregno, G
  • Dorrani, N
  • et al.

Published Web Location

http://europepmc.org/articles/PMC5338099?pdf=render
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Abstract

© 2017 The Author(s).Background: Structural variation (SV) influences genome organization and contributes to human disease. However, the complete mutational spectrum of SV has not been routinely captured in disease association studies. Results: We sequence

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