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System medicine approach to improve diagnosis and prognosis in Autism Spectrum Disorders (ASD), based on extensive genomic, biochemical and clinical data
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| 1.76 MB | Adobe PDF |
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Resumo(s)
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.
Descrição
Palavras-chave
Perturbações do Desenvolvimento Infantil e Saúde Mental Autism Spectrum Disorders