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Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.

Alena ZablotskayaHilde Van EschKevin J VerstrepenGuy FroyenJoris Robert Vermeesch
Published in: BMC medical genomics (2018)
This study demonstrates the power of single molecule sequencing to measure tandem repeat lengths and detect expansions, and suggests that tandem repeat mutations may be a hidden cause of X-linked intellectual disability.
Keyphrases
  • single molecule
  • intellectual disability
  • autism spectrum disorder
  • single cell
  • atomic force microscopy
  • living cells
  • high resolution
  • early onset
  • healthcare
  • high density
  • high throughput sequencing