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Novel Autism Spectrum Disorder (ASD) Risk Genes identified in Genome-Wide Association Studies (GWAS) through Protein Interaction Network analysis

2015-10Conference object Restricted access
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dc.contributor.authorVicente, A.M.
dc.contributor.authorCorreia, Catarina
dc.contributor.authorConceição, Inês
dc.contributor.authorKwiatkowska, Katarzyna
dc.contributor.authorRodrigues, Catarina
dc.contributor.authorMarques, Ana Rita
dc.contributor.authorOliveira, Guiomar
dc.date.accessioned2016-02-29T12:52:30Z
dc.date.available2016-02-29T12:52:30Z
dc.date.issued2015-10
dc.description.abstractASD is a common disorder with heterogeneous clinical presentation and unclear etiology. Rare, highly penetrant, variants explain approximately 20% of ASD genetic liability, while common genetic factors of low effect, which combine in affected individuals to reach a pathological threshold, have proven more difficult to identify. The current GWAS data is consistent with the concept that common variant risk effects in ASD are too small to be detected with single SNP analysis. To uncover these variants from within the statistical “noise” in GWAS, new analysis strategies are needed. Disease-causing genes are expected to be functionally related, and therefore the proximity between gene products in a protein-protein interaction network can be used to distinguish relevant from spurious findings in GWAS.pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/3521
dc.language.isoengpt_PT
dc.publisherInstituto Nacional de Saúde Doutor Ricardo Jorge, IPpt_PT
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mentalpt_PT
dc.subjectAutismopt_PT
dc.subjectAutism Spectrum Disorderpt_PT
dc.subjectGenome-Wide Association Studiespt_PT
dc.titleNovel Autism Spectrum Disorder (ASD) Risk Genes identified in Genome-Wide Association Studies (GWAS) through Protein Interaction Network analysispt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceToronto, Canadapt_PT
oaire.citation.titleXXIIIrd World Congress on Psychiatric Genetics, 16-20 October 2015pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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