Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

• Published in: Nature neuroscience Vol. 20; no. 4; pp. 602 - 611
• Main Authors: C Yuen, Ryan K, Merico, Daniele, Bookman, Matt, L Howe, Jennifer, Thiruvahindrapuram, Bhooma, Patel, Rohan V, Whitney, Joe, Deflaux, Nicole, Bingham, Jonathan, Wang, Zhuozhi, Pellecchia, Giovanna, Buchanan, Janet A, Walker, Susan, Marshall, Christian R, Uddin, Mohammed, Zarrei, Mehdi, Deneault, Eric, D'Abate, Lia, Chan, Ada J S, Koyanagi, Stephanie, Paton, Tara, Pereira, Sergio L, Hoang, Ny, Engchuan, Worrawat, Higginbotham, Edward J, Ho, Karen, Lamoureux, Sylvia, Li, Weili, MacDonald, Jeffrey R, Nalpathamkalam, Thomas, Sung, Wilson W L, Tsoi, Fiona J, Wei, John, Xu, Lizhen, Tasse, Anne-Marie, Kirby, Emily, Van Etten, William, Twigger, Simon, Roberts, Wendy, Drmic, Irene, Jilderda, Sanne, Modi, Bonnie MacKinnon, Kellam, Barbara, Szego, Michael, Cytrynbaum, Cheryl, Weksberg, Rosanna, Zwaigenbaum, Lonnie, Woodbury-Smith, Marc, Brian, Jessica, Senman, Lili, Iaboni, Alana, Doyle-Thomas, Krissy, Thompson, Ann, Chrysler, Christina, Leef, Jonathan, Savion-Lemieux, Tal, Smith, Isabel M, Liu, Xudong, Nicolson, Rob, Seifer, Vicki, Fedele, Angie, Cook, Edwin H, Dager, Stephen, Estes, Annette, Gallagher, Louise, Malow, Beth A, Parr, Jeremy R, Spence, Sarah J, Vorstman, Jacob, Frey, Brendan J, Robinson, James T, Strug, Lisa J, Fernandez, Bridget A, Elsabbagh, Mayada, Carter, Melissa T, Hallmayer, Joachim, Knoppers, Bartha M, Anagnostou, Evdokia, Szatmari, Peter, Ring, Robert H, Glazer, David, Pletcher, Mathew T, Scherer, Stephen W
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.04.2017; Nature Publishing Group
• Subjects: 45; 45/23; 631/208/514/2254; 692/699/476/1373; Animal Genetics and Genomics; Autism; Autism Spectrum Disorder - genetics; Behavioral Sciences; Biological Techniques; Biomedicine; Chromosome Aberrations; Databases, Genetic; DNA Copy Number Variations; Genetic aspects; Genetic Predisposition to Disease - genetics; Genome-Wide Association Study - methods; Genotypes; Health aspects; Humans; Innovations; Molecular targeted therapy; Mutagenesis, Insertional - genetics; Neurobiology; Neurosciences; Pervasive developmental disorders; Phenotype; Polymorphism, Single Nucleotide - genetics; Psychological aspects; resource; Risk factors; Sequence Deletion - genetics

Yuen et al . developed a cloud-based database with 5,205 whole genomes from families with autism spectrum disorder (ASD). They identified 18 new candidate ASD-risk genes and approximately 100 risk genes and copy-number loci, which account for 11% of the cases. They also found that individuals bearin...