Publication
Use of machine leaning approaches to explore genetic and phenotypic associations for Autism Spectrum Disorder
| dc.contributor.author | Asif, M. | |
| dc.contributor.author | Conceição, I.C. | |
| dc.contributor.author | Machado, C. | |
| dc.contributor.author | Pereira, P. | |
| dc.contributor.author | Café, C. | |
| dc.contributor.author | Almeida, J. | |
| dc.contributor.author | Mouga, S. | |
| dc.contributor.author | Oliveira, G. | |
| dc.contributor.author | Couto, F. | |
| dc.contributor.author | Vicente, A.M. | |
| dc.date.accessioned | 2014-11-26T17:34:49Z | |
| dc.date.available | 2014-11-26T17:34:49Z | |
| dc.date.issued | 2014-11 | |
| dc.description | Patients and parents were genotyped in the context of the Autism Genome Project | por |
| dc.description.abstract | Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder of high complexity ASD is characterized by impaired social interaction and communication and by stereotyped behaviors, and a high heterogeneity in clinical presentation. It is hypothesized that such complex heterogeneous phenotypic behaviors are associated with genetic factors. To further dissect the complex correlations between phenotype and genotype in ASD, in the current study we used powerful machine learning algorithms, like decision trees, to integrate clinical information from diagnostic instruments like the ADI-R and the ADOS as well as adaptive behavior and cognitive scales (VABS and WISC) with genetic data (Copy Number Variants, CNVs). ASD traits in parents were assessed using specific tools SRS and PSPQ. | por |
| dc.description.sponsorship | M. Asif is supported by the Fundação para a Ciência e Tecnologia (Portugal) (SFRH/BD/52485/2014). | por |
| dc.identifier.uri | http://hdl.handle.net/10400.18/2469 | |
| dc.language.iso | eng | por |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | por |
| dc.subject | Perturbações do Desenvolvimento Infantil e Saúde Mental | por |
| dc.subject | Autism Spectrum Disorder | por |
| dc.subject | Autism | por |
| dc.title | Use of machine leaning approaches to explore genetic and phenotypic associations for Autism Spectrum Disorder | por |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Lisboa, Portugal | por |
| oaire.citation.title | 18ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 19-21 Novembro 2014 | por |
| rcaap.rights | embargoedAccess | por |
| rcaap.type | conferenceObject | por |
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