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

Asif, M.; Martiniano, Hugo F.; Rasga, Célia; Marques, Ana R.; Santos, João X.; Couto, Francisco M.; Vicente, Astrid M.

http://hdl.handle.net/10400.18/4851

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Objectives: 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.