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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 ho...

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Principais autores: Soo-Whee Kim, Hyeji Lee, Da Yea Song, Gang-Hee Lee, Jungeun Ji, Jung Woo Park, Jae Hyun Han, Jee Won Lee, Hee Jung Byun, Ji Hyun Son, Ye Rim Kim, Yoojeong Lee, Jaewon Kim, Ashish Jung, Junehawk Lee, Eunha Kim, So Hyun Kim, Jeong Ho Lee, F. Kyle Satterstrom, Santhosh Girirajan, Anders D. Børglum, Jakob Grove, Eunjoon Kim, Donna M. Werling, Hee Jeong Yoo, Joon-Yong An
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2024-09-01
coleção:Genome Medicine
Assuntos:
Whole-genome sequencing
Autism
Sex difference
Phenotypic diversity
Familial pattern
Polygenic burden
Acesso em linha:https://doi.org/10.1186/s13073-024-01385-6
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