Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders

Most genetic studies consider autism spectrum disorder (ASD) and developmental disorder (DD) separately despite overwhelming comorbidity and shared genetic etiology. Here, we analyzed de novo variants (DNVs) from 15,560 ASD (6,557 from SPARK) and 31,052 DD trios independently and also combined as br...

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Detalles Bibliográficos
Autores principales: Wang, Tianyun, Kim, Chang N., Bakken, Trygve E., Gillentine, Madelyn A., Henning, Barbara, Mao, Yafei, Gilissen, Christian, Nowakowski, Tomasz J., Eichler, Evan E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2022
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674258/
https://www.ncbi.nlm.nih.gov/pubmed/36350923
http://dx.doi.org/10.1073/pnas.2203491119

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