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An integrative system biology approach to delineate complex genotype-phenotype associations in Autism Spectrum Disorder

2017-11-14Conference object Restricted access
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dc.contributor.authorAsif, M.
dc.contributor.authorMartiniano, Hugo F.
dc.contributor.authorRasga, Célia
dc.contributor.authorMarques, Ana R.
dc.contributor.authorSantos, João X.
dc.contributor.authorCouto, Francisco M.
dc.contributor.authorVicente, Astrid M.
dc.date.accessioned2017-12-12T14:32:48Z
dc.date.available2017-12-12T14:32:48Z
dc.date.issued2017-11-14
dc.description.abstractObjectives: The global objective of the study is to improve the current knowledge on ASD prognosis and diagnosis by delineating the complex genotype-phenotype associations using an integrative systems biology approach. For this purpose three specific objectives were pursued: - To identify clinically similar subgroups of individuals with ASD; - To find biological processes disrupted by rare CNVs targeting brain genes in ASD subjects; - To train a machine learning classifier for the clinical prediction of disease progression from genetic information in very young children.pt_PT
dc.description.sponsorshipMA is supported by the Fundação para a Ciência e Tecnologia, Portugal (SFRH/BD/52485/2014). Patients and parents were genotyped in the context of the Autism Genome Project (AGP), funded by NIMH, HRB, MRC, Autism Speaks, Hilibrand Foundation, Genome Canada, OGI, CIHR.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/4851
dc.language.isoengpt_PT
dc.publisherInstituto Nacional de Saúde Doutor Ricardo Jorge, IPpt_PT
dc.subjectAutism Spectrum Disorderpt_PT
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mentalpt_PT
dc.subjectAutismopt_PT
dc.titleAn integrative system biology approach to delineate complex genotype-phenotype associations in Autism Spectrum Disorderpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceHeidelberg, Alemanhapt_PT
oaire.citation.titleEMBO I EMBL Symposia - From Single- to Multiomics: Applications and Challenges in Data Integration, 12-14 Nov 2017pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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