Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.

ABSTRACT:

Background

Both de novo variants and recessive inherited variants were associated with autism spectrum disorder (ASD). This study aimed to use exome data to prioritize recessive inherited genes (RIGs) with biallelically inherited variants in autosomes or X-linked inherited variants in males and investigate the functional relationships between RIGs and genes with de novo variants (DNGs).

Methods

We used a bioinformatics pipeline to analyze whole-exome sequencing data from 1799 ASD quads (containing one proband, one unaffected sibling, and their parents) from the Simons Simplex Collection and prioritize candidate RIGs with rare biallelically inherited variants in autosomes or X-linked inherited variants in males. The relationships between RIGs and DNGs were characterized based

SUBMITTER: Wang L 

PROVIDER: S-EPMC7541261 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature