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 LeePublished 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.