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

ABSTRACT:

Background

Retrotransposons have been implicated as causes of Mendelian disease, but their role in autism spectrum disorder (ASD) has not been systematically defined, because they are only called with adequate sensitivity from whole genome sequencing (WGS) data and a large enough cohort for this analysis has only recently become available.

Results

We analyzed WGS data from a cohort of 2288 ASD families from the Simons Simplex Collection by establishing a scalable computational pipeline for retrotransposon insertion detection. We report 86,154 polymorphic retrotransposon insertions-including > 60% not previously reported-and 158 de novo retrotransposition events. The overall burden of de novo events was similar between ASD individuals and unaffected siblings, with 1 de novo i

SUBMITTER: Borges-Monroy R 

PROVIDER: S-EPMC8627061 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature