Article
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.
Nature genetics - 1 Sept 2022
Fu Jack M, Satterstrom F Kyle, Peng Minshi, Brand Harrison, Collins Ryan L, Dong Shan, Wamsley Brie, Klei Lambertus, Wang Lily, Hao Stephanie P, Stevens Christine R, Cusick Caroline, Babadi Mehrtash, Banks Eric, Collins Brett, Dodge Sheila, Gabriel Stacey B, Gauthier Laura, Lee Samuel K, Liang Lindsay, Ljungdahl Alicia, Mahjani Behrang, Sloofman Laura, Smirnov Andrey N, Barbosa Mafalda, Betancur Catalina, Brusco Alfredo, Chung Brian H Y, Cook Edwin H, Cuccaro Michael L, Domenici Enrico, Ferrero Giovanni Battista, Gargus J Jay, Herman Gail E, Hertz-Picciotto Irva, Maciel Patricia, Manoach Dara S, Passos-Bueno Maria Rita, Persico Antonio M, Renieri Alessandra, Sutcliffe James S, Tassone Flora, Trabetti Elisabetta, Campos Gabriele, Cardaropoli Simona, Carli Diana, Chan Marcus C Y, Fallerini Chiara, Giorgio Elisa, Girardi Ana Cristina, Hansen-Kiss Emily, Lee So Lun, Lintas Carla, Ludena Yunin, Nguyen Rachel, Pavinato Lisa, Pericak-Vance Margaret, Pessah Isaac N, Schmidt Rebecca J, Smith Moyra, Costa Claudia I S, Trajkova Slavica, Wang Jaqueline Y T, Yu Mullin H C, Cutler David J, De Rubeis Silvia, Buxbaum Joseph D, Daly Mark J, Devlin Bernie, Roeder Kathryn, Sanders Stephan J, Talkowski Michael E
Abstract excerpt
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disrupted by these variants from joint analysis of protein-truncating variants (PTVs), missense variants and copy number variants (CNVs) in a cohort of 63,237 individuals. We discovered 72 genes associated with ASD at false discovery rate (FDR) ≤ 0.001 (185 at...
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