Browsing by Author "Martiniano, Hugo F."
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- An integrative system biology approach to delineate complex genotype-phenotype associations in Autism Spectrum DisorderPublication . Asif, M.; Martiniano, Hugo F.; Rasga, Célia; Marques, Ana R.; Santos, João X.; Couto, Francisco M.; Vicente, Astrid M.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.
- An integrative system biology approach to delineate complex genotype-phenotype associations in Autism Spectrum DisorderPublication . Asif, M; Martiniano, Hugo F.; Rasga, Celia; Marques, Ana R.; Santos, Joao X.; O., Guiomar; Couto, Francisco M.; Vicente, Astrid M.Introduction: Autism Spectrum Disorder (ASD) is characterized by deficits in social interaction and communication, and by the presence of repetitive behavior and/or restricted interests. ASD manifests with heterogeneous phenotype and has an estimated global prevalence of ~1%;- ASD is difficult to diagnose in very young children. Delayed diagnosis leads to delay in applying behavioral therapies that may help to reduce symptoms, particularly when applied at young age; - Copy Number Variant (CNV) screening has been widely used for primary diagnosis purposes and is associated with phenotypic variability in ASD patients; - Large scale studies have identified hundreds of ASD implicated loci; however, mechanistic and clinical interpretation of these disease-causing variants remains elusive.
- Translating the complex ASD genetic architecture into clinical phenotype using an integrative system biology approachPublication . Asif, M.; Martiniano, Hugo F.; Rasga, Celia; Marques, Ana R.; Santos, João X.; Couto, Francisco M.; Vicente, A.M.Objective: The global objective of this study is to improve ASD diagnosis and prognosis by dissecting the complex genotype-phenotype associations using an integrative systems biology approach.