Title | Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder. |
Publication Type | Journal Article |
Year of Publication | 2016 |
Authors | Krishnan, A, Zhang, R, Yao, V, Theesfeld, CL, Wong, AK, Tadych, A, Volfovsky, N, Packer, A, Lash, A, Troyanskaya, OG |
Journal | Nat Neurosci |
Volume | 19 |
Issue | 11 |
Pagination | 1454-1462 |
Date Published | 2016 Nov |
ISSN | 1546-1726 |
Keywords | Autism Spectrum Disorder, DNA Copy Number Variations, Gene Regulatory Networks, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide |
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. |
DOI | 10.1038/nn.4353 |
Alternate Journal | Nat. Neurosci. |
PubMed ID | 27479844 |
Grant List | P50 GM071508 / GM / NIGMS NIH HHS / United States R01 GM071966 / GM / NIGMS NIH HHS / United States R01 HG005998 / HG / NHGRI NIH HHS / United States T32 HG003284 / HG / NHGRI NIH HHS / United States |