Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new cases recruited online by SPARK. We identified 60 genes with exome-wide significance (P < 2.5 × 10(−6)), including...

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Detalles Bibliográficos
Autores principales: Zhou, Xueya, Feliciano, Pamela, Shu, Chang, Wang, Tianyun, Astrovskaya, Irina, Hall, Jacob B., Obiajulu, Joseph U., Wright, Jessica R., Murali, Shwetha C., Xu, Simon Xuming, Brueggeman, Leo, Thomas, Taylor R., Marchenko, Olena, Fleisch, Christopher, Barns, Sarah D., Snyder, LeeAnne Green, Han, Bing, Chang, Timothy S., Turner, Tychele N., Harvey, William T., Nishida, Andrew, O’Roak, Brian J., Geschwind, Daniel H., Michaelson, Jacob J., Volfovsky, Natalia, Eichler, Evan E., Shen, Yufeng, Chung, Wendy K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9470534/
https://www.ncbi.nlm.nih.gov/pubmed/35982159
http://dx.doi.org/10.1038/s41588-022-01148-2

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