Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

ABSTRACT Individuals with autism spectrum disorder (ASD) or related neurodevelopmental disorders (NDDs) often carry disruptive mutations in genes that are depleted of functional variation in the broader population. We build upon this observation and exome sequencing from 154,842 individuals to explo...

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Main Authors: Jack Fu, F. Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L. Collins, Shan Dong, Lambertus Klei, Christine Stevens, Caroline Cusick, Mehrtash Babadi, Eric Banks, Brett Collins, Sheila Dodge, Stacey B. Gabriel, Laura D. Gauthier, Samuel K. Lee, Lindsay Liang, Alicia Ljungdahl, Behrang Mahjani, Laura Sloofman, Andrey N. Smirnov, Mafalda Barbosa, Alfredo Brusco, Brian Hon‐Yin Chung, Michael L. Cuccaro, Enrico Domenici, Giovanni Battista Ferrero, J. Jay Gargus, Gail E. Herman, Irva Hertz‐Picciotto, Patrı́cia Maciel, Dara S. Manoach, Maria Rita Passos‐Bueno, Antonio M. Persico, Alessandra Renieri, Flora Tassone, Elisabetta Trabetti, Gabriele da Silva Campos, Marcus C.Y. Chan, Chiara Fallerini, Elisa Giorgio, Ana Cristina Girard, Emily Hansen‐Kiss, So Lun Lee, Carla Lintas, Yunin Ludeña, Rachel Nguyen, Lisa Pavinato, Margaret A. Pericak‐Vance, Isaac N. Pessah, Evelise Riberi, Rebecca J. Schmidt, Moyra Smith, Claudia I.C. Souza, Slavica Trajkova, Jaqueline Y. T. Wang, Mullin H.C. Yu, David J. Cutler, Silvia De Rubeis, Joseph D. Buxbaum, Mark J. Daly, Bernie Devlin, Kathryn Roeder, Stephan Sanders, Michael E. Talkowski
פורמט: Pré-impressão
שפה:אנגלית
יצא לאור: 2021
גישה מקוונת:https://doi.org/10.1101/2021.12.20.21267194
https://www.medrxiv.org/content/medrxiv/early/2021/12/21/2021.12.20.21267194.full.pdf
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https://doi.org/10.1101/2021.12.20.21267194
https://www.medrxiv.org/content/medrxiv/early/2021/12/21/2021.12.20.21267194.full.pdf

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