Skip to main content

Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder

Author(s): Krishnan, A; Zhang, R; Yao, V; Theesfeld, CL; Wong, Aaron K.; et al

Download
To refer to this page use: http://arks.princeton.edu/ark:/88435/pr1nq3g
Full metadata record
DC FieldValueLanguage
dc.contributor.authorKrishnan, A-
dc.contributor.authorZhang, R-
dc.contributor.authorYao, V-
dc.contributor.authorTheesfeld, CL-
dc.contributor.authorWong, Aaron K.-
dc.contributor.authorTadych, A-
dc.contributor.authorVolfovsky, N-
dc.contributor.authorPacker, A-
dc.contributor.authorLash, A-
dc.contributor.authorTroyanskaya, Olga G.-
dc.date.accessioned2018-07-20T15:08:49Z-
dc.date.available2018-07-20T15:08:49Z-
dc.date.issued2016-08-01en_US
dc.identifier.citationKrishnan, A, Zhang, R, Yao, V, Theesfeld, CL, Wong, AK, Tadych, A, Volfovsky, N, Packer, A, Lash, A, Troyanskaya, OG. (2016). Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder. Nature Neuroscience, 19 (1454 - 1462. doi:10.1038/nn.4353en_US
dc.identifier.urihttp://arks.princeton.edu/ark:/88435/pr1nq3g-
dc.description.abstractAutism 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.en_US
dc.format.extent1454 - 1462en_US
dc.language.isoen_USen_US
dc.relation.ispartofNature Neuroscienceen_US
dc.rightsAuthor's manuscripten_US
dc.titleGenome-wide prediction and functional characterization of the genetic basis of autism spectrum disorderen_US
dc.typeJournal Articleen_US
dc.identifier.doidoi:10.1038/nn.4353-
dc.date.eissued2016-08-01en_US
pu.type.symplectichttp://www.symplectic.co.uk/publications/atom-terms/1.0/journal-articleen_US

Files in This Item:
File Description SizeFormat 
Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder.pdf975.1 kBAdobe PDFView/Download


Items in OAR@Princeton are protected by copyright, with all rights reserved, unless otherwise indicated.