Publication
System medicine approach to improve diagnosis and prognosis in Autism Spectrum Disorders (ASD), based on extensive genomic, biochemical and clinical data
| dc.contributor.author | Asif, M. | |
| dc.contributor.author | Couto, F. | |
| dc.contributor.author | Vicente, A.M. | |
| dc.date.accessioned | 2015-02-17T17:07:15Z | |
| dc.date.available | 2015-02-17T17:07:15Z | |
| dc.date.issued | 2014-12-11 | |
| dc.description.abstract | 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. | por |
| dc.identifier.uri | http://hdl.handle.net/10400.18/2885 | |
| dc.language.iso | eng | por |
| dc.subject | Perturbações do Desenvolvimento Infantil e Saúde Mental | por |
| dc.subject | Autism Spectrum Disorders | por |
| dc.title | System medicine approach to improve diagnosis and prognosis in Autism Spectrum Disorders (ASD), based on extensive genomic, biochemical and clinical data | por |
| dc.type | lecture | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Lisboa, Portugal | por |
| oaire.citation.title | 1st BioSys PhD Day, Faculdade de Ciências da Universidade de Lisboa, 11 Dezembro 2014 | por |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | lecture | por |