A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

The genetic etiology of autism spectrum disorder (ASD) is multifactorial, but how combinations of genetic factors determine risk is unclear. In a large family sample, we show that genetic loads of rare and polygenic risk are inversely correlated in cases and greater in females than in males, consist...

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Detalles Bibliográficos
Autores principales: Antaki, Danny, Guevara, James, Maihofer, Adam X., Klein, Marieke, Gujral, Madhusudan, Grove, Jakob, Carey, Caitlin E., Hong, Oanh, Arranz, Maria J., Hervas, Amaia, Corsello, Christina, Vaux, Keith K., Muotri, Alysson R., Iakoucheva, Lilia M., Courchesne, Eric, Pierce, Karen, Gleeson, Joseph G., Robinson, Elise, Nievergelt, Caroline M., Sebat, Jonathan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9474668/
https://www.ncbi.nlm.nih.gov/pubmed/35654974
http://dx.doi.org/10.1038/s41588-022-01064-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9474668/
https://www.ncbi.nlm.nih.gov/pubmed/35654974
http://dx.doi.org/10.1038/s41588-022-01064-5

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