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dc.contributor.authorSaxena, Vishal
dc.contributor.authorRamdas, Shweta
dc.contributor.authorOchoa, Courtney Rothrock
dc.contributor.authorWallace, David Robert
dc.contributor.authorBhide, Pradeep
dc.contributor.authorKohane, Isaac
dc.date.accessioned2013-02-26T21:07:35Z
dc.date.available2013-02-26T21:07:35Z
dc.date.issued2012-12
dc.date.submitted2010-11
dc.identifier.issn1932-6203
dc.identifier.urihttp://hdl.handle.net/1721.1/77198
dc.description.abstractBackground: Numerous linkage studies have been performed in pedigrees of Autism Spectrum Disorders, and these studies point to diverse loci and etiologies of autism in different pedigrees. The underlying pattern may be identified by an integrative approach, especially since ASD is a complex disorder manifested through many loci. Method: Autism spectrum disorder (ASD) was studied through two different and independent genome-scale measurement modalities. We analyzed the results of copy number variation in autism and triangulated these with linkage studies. Results: Consistently across both genome-scale measurements, the same two molecular themes emerged: immune/chemokine pathways and developmental pathways. Conclusion: Linkage studies in aggregate do indeed share a thematic consistency, one which structural analyses recapitulate with high significance. These results also show for the first time that genomic profiling of pathways using a recombination distance metric can capture pathways that are consistent with those obtained from copy number variations (CNV).en_US
dc.language.isoen_US
dc.publisherPublic Library of Scienceen_US
dc.relation.isversionofhttp://dx.doi.org/10.1371/journal.pone.0048835en_US
dc.rightsCreative Commons Attributionen_US
dc.rights.urihttp://creativecommons.org/licenses/by/2.5/en_US
dc.sourcePLoSen_US
dc.titleStructural, Genetic, and Functional Signatures of Disordered Neuro-Immunological Development in Autism Spectrum Disorderen_US
dc.typeArticleen_US
dc.identifier.citationSaxena, Vishal et al. “Structural, Genetic, and Functional Signatures of Disordered Neuro-Immunological Development in Autism Spectrum Disorder.” Ed. Vladimir N. Uversky. PLoS ONE 7.12 (2012).en_US
dc.contributor.departmentMassachusetts Institute of Technology. Department of Mechanical Engineeringen_US
dc.contributor.mitauthorSaxena, Vishal
dc.contributor.mitauthorWallace, David Robert
dc.relation.journalPLoS ONEen_US
dc.eprint.versionFinal published versionen_US
dc.type.urihttp://purl.org/eprint/type/JournalArticleen_US
eprint.statushttp://purl.org/eprint/status/PeerRevieweden_US
dspace.orderedauthorsSaxena, Vishal; Ramdas, Shweta; Ochoa, Courtney Rothrock; Wallace, David; Bhide, Pradeep; Kohane, Isaacen
dc.identifier.orcidhttps://orcid.org/0000-0002-9577-6690
mit.licensePUBLISHER_CCen_US
mit.metadata.statusComplete


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