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Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder.

Rebeca Borges-MonroyChong ChuCaroline DiasJaejoon ChoiSoohyun LeeYue GaoTaehwan ShinPeter J ParkChristopher A WalshEunjung Alice Lee
Published in: Mobile DNA (2021)
These findings suggest a modest, but important, impact of intronic and exonic retrotransposon insertions in ASD, show the importance of WGS for their analysis, and highlight the utility of specific bioinformatic tools for high-throughput detection of retrotransposon insertions.
Keyphrases
  • autism spectrum disorder
  • high throughput
  • intellectual disability
  • attention deficit hyperactivity disorder
  • single cell
  • loop mediated isothermal amplification
  • real time pcr