Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism.

ABSTRACT:

Background

Whole-genome sequencing (WGS) analyses have found higher genetic burden in autistic females compared to males, supporting higher liability threshold in females. However, genomic evidence of sex differences has been limited to European ancestry to date and little is known about how genetic variation leads to autism-related traits within families across sex.

Methods

To address this gap, we present WGS data of Korean autism families (n = 2255) and a Korean general population sample (n = 2500), the largest WGS data of East Asian ancestry. We analyzed sex differences in genetic burden and compared with cohorts of European ancestry (n = 15,839). Further, with extensively collected family-wise Korean autism phenotype data (n = 3730), we investigated sex differences in ph

SUBMITTER: Kim SW 

PROVIDER: S-EPMC11429951 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature