Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/2885
Título: System medicine approach to improve diagnosis and prognosis in Autism Spectrum Disorders (ASD), based on extensive genomic, biochemical and clinical data
Autor: Asif, M.
Couto, F.
Vicente, A.M.
Palavras-chave: Perturbações do Desenvolvimento Infantil e Saúde Mental
Autism Spectrum Disorders
Data: 11-Dez-2014
Resumo: Objectives: The overall objective of the present work is to better understand the biological basis of ASD phenotypic variability and facilitate a fast and accurate ASD diagnosis by seeking behavior associations with specific genetic risk factors for ASD. More specifically the aims are: - ASD data repository and Knowledge base graph: To design and establish a dynamic resource repository for ASD data storage and management; - Behavior Signature for Genetic factors: To associate ASD behavior signatures with genetic data (CNVs and SNV characteristics). Functional genomics data (miRNA, metabolome and neurophysiologic data) will also be included in model definition; - Semantic layer and Enrichment analysis: To enable the integration of a semantic layer to available data. - Predictive models for ASD diagnosis and prognosis: to define predictive models for ASD based on systems biology approaches. - Framework development: To set up a framework – pipeline for analysis of ASD and other related complex diseases.
URI: http://hdl.handle.net/10400.18/2885
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