Co-occurrence of rare variants implicates gene pairs in cytoskeletal pathways and is associated with increased severity in autism spectrum disorder

Abstract Background The genetic basis of autism spectrum disorder (ASD) is complicated by high heritability and substantial heterogeneity, in which de novo variants and polygenic burden from common variants have not been comprehensively elucidated. Increasing evidence indicates that aggregates of ra...

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Detalhes bibliográficos

Principais autores:	Hyeji Lee, Kahee Ko, Seoyeon Kim, Ganghee Lee, Soowhee Kim, Jihae Lee, Da-Yea Song, Guiyoung Bong, Jae Hyun Han, Jeewon Lee, Ye Rim Kim, Yoojeong Lee, Eunjoon Kim, Anders D. Børglum, Jakob Grove, So Hyun Kim, Woong Sun, Hee Jeong Yoo, Joon-Yong An
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2026-03-01
coleção:	Genome Biology
Assuntos:	Whole-genome sequencing Whole-exome sequencing ASD Rare variants Gene combinations Cytoskeleton pathway
Acesso em linha:	https://doi.org/10.1186/s13059-026-04041-x
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