Publication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
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
# Autism Spectrum Disorder Genomic Resource and Candidate Gene Discovery
This study presents the MSSNG resource, a whole-genome sequencing database of 5,205 samples from autism spectrum disorder (ASD) families with accompanying clinical data, made accessible through a cloud platform and controlled-access portal. The researchers identified 18 new candidate ASD-risk genes by analyzing de novo genetic variants in participants with ASD.
The analysis revealed an average of 73.8 de novo single nucleotide variants and 12.6 de novo insertions, deletions, or copy number variations per ASD subject. Individuals carrying mutations in ASD susceptibility genes demonstrated significantly lower adaptive ability, establishing a genotype-phenotype correlation. This large-scale genomic resource contributes to understanding the genetic heterogeneity underlying ASD and provides a foundation for future subcategorization of ASD phenotypes based on underlying genetic factors.
Abstract
We are performing whole-genome sequencing of families with autism spectrum disorder (ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic factors involved. Here we report sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal. We found an average of 73.8 de novo single nucleotide variants and 12.6 de novo insertions and deletions or copy number variations per ASD subject. We identified 18 new candidate ASD-risk genes and found that participants bearing mutations in susceptibility genes had significantly lower adaptive ability (P = 6 × 10