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

Asif, M; Martiniano, Hugo F.; Rasga, Celia; Marques, Ana R.; Santos, Joao X.; O., Guiomar; Couto, Francisco M.; Vicente, Astrid M.

http://hdl.handle.net/10400.18/4852

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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.