Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder. Author Arjun Krishnan, Ran Zhang, Victoria Yao, Chandra Theesfeld, Aaron Wong, Alicja Tadych, Natalia Volfovsky, Alan Packer, Alex Lash, Olga Troyanskaya Publication Year 2016 Type Journal Article Abstract Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic basis. Yet, only a small fraction of potentially causal genes-about 65 genes out of an estimated several hundred-are known with strong genetic evidence from sequencing studies. We developed a complementary machine-learning approach based on a human brain-specific gene network to present a genome-wide prediction of autism risk genes, including hundreds of candidates for which there is minimal or no prior genetic evidence. Our approach was validated in a large independent case-control sequencing study. Leveraging these genome-wide predictions and the brain-specific network, we demonstrated that the large set of ASD genes converges on a smaller number of key pathways and developmental stages of the brain. Finally, we identified likely pathogenic genes within frequent autism-associated copy-number variants and proposed genes and pathways that are likely mediators of ASD across multiple copy-number variants. All predictions and functional insights are available at http://asd.princeton.edu. Keywords Humans, DNA Copy Number Variations, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Gene Regulatory Networks, Autism Spectrum Disorder Journal Nat Neurosci Volume 19 Issue 11 Pages 1454-1462 Date Published 2016 Nov ISSN Number 1546-1726 DOI 10.1038/nn.4353 Alternate Journal Nat Neurosci PMCID PMC5803797 PMID 27479844 PubMedPubMed CentralGoogle ScholarBibTeXEndNote X3 XML