Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data.

ABSTRACT:

Background

Numerous genes are implicated in autism spectrum disorder (ASD). ASD encompasses a wide-range and severity of symptoms and co-occurring conditions; however, the details of how genetic variation contributes to phenotypic differences are unclear. This creates a challenge for translating genetic evidence into clinically useful knowledge. Sleep disturbances are particularly prevalent co-occurring conditions in ASD, and genetics may inform treatment. Identifying convergent mechanisms with evidence for dysfunction that connect ASD and sleep biology could help identify better treatments for sleep disturbances in these individuals.

Methods

To identify mechanisms that influence risk for ASD and co-occurring sleep disturbances, we analyzed whole exome sequence data from ind

SUBMITTER: Veatch OJ 

PROVIDER: S-EPMC9233372 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature