Article
Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism.
Genome medicine - 27 Sept 2024
Kim Soo-Whee, Lee Hyeji, Song Da Yea, Lee Gang-Hee, Ji Jungeun, Park Jung Woo, Han Jae Hyun, Lee Jee Won, Byun Hee Jung, Son Ji Hyun, Kim Ye Rim, Lee Yoojeong, Kim Jaewon, Jung Ashish, Lee Junehawk, Kim Eunha, Kim So Hyun, Lee Jeong Ho, Satterstrom F Kyle, Girirajan Santhosh, Børglum Anders D, Grove Jakob, Kim Eunjoon, Werling Donna M, Yoo Hee Jeong, An Joon-Yong
Abstract excerpt
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...
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