DPSPDNT - Apresentações orais em encontros internacionais
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Browsing DPSPDNT - Apresentações orais em encontros internacionais by Author "Asif, Muhammad"
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- Biomedical Knowledge Graph Embeddings for Personalized MedicinePublication . Vilela, Joana; Asif, Muhammad; Marques, Ana Rita; Xavier Santos, João; Rasga, Célia; Vicente, Astrid; Martiniano, HugoPersonalized medicine promises to revolutionize healthcare in the coming years. However significant challenges remain, namely in regard to integrating the vast amount of biomedical knowledge generated in the last few years. Here we describe an approach that uses Knowledge Graph Embedding (KGE) methods on a biomedical Knowledge Graph as a path to reasoning over the wealth of information stored in publicly accessible databases. We use curated databases such as Ensembl, DisGeNET and Gene Ontology as data sources to build a Knowledge Graph containing relationships between genes, diseases and other biological entities and explore the potential of KGE methods to derive medically relevant insights from this KG. To showcase the method’s usefulness we describe two use cases: a) prediction of gene-disease associations and b) clustering of disease embeddings. We show that the top gene-disease associations predicted by this approach can be confirmed in external databases or have already been identified in the literature. An analysis of clusters of diseases, with a focus on Autism Spectrum Disorder (ASD), affords novel insights into the biology of this paradigmatic complex disorder and the overlap of its genetic background with other diseases
- Identification of molecular alterations in neurotransmission and synaptic genes in Autism Spectrum DisorderPublication . Vilela, Joana; Martiniano, Hugo; Luzi, Sonija; Marques, Ana; Santos, João; Asif, Muhammad; Rasga, Célia; Oliveira, Guiomar; Vicente, AstridAutism Spectrum Disorder (ASD) is a neurodevelopmental disorder, which affects brain function. It is characterized by the presence of social communication deficits and restricted, repetitive patterns of behavior. ASD has a strong genetic component and there is evidence in support of many putative risk genes. However, the genetics and the biological processes underlying the disease are still incompletely understood and will require the integration of intermediate phenotypic analysis provided by direct observation tools such as brain imaging.
- Maternal CNV transmission to sons with autism correlates with phenotypic traits in the Broad Autism PhenotypePublication . Vicente, A.M.; Asif, Muhammad; Conceição, Inês; Kwiatkowska, Katarzyna; Rasga, Celia; Oliveira, Guiomar; Sousa, Lisete; Couto, FranciscoAutism Spectrum Disorder (ASD): Common neurodevelopmental disorder, global prevalence ~1 %; Persistent deficits in social communication and social interaction; restricted and repetitive behavior, interests, or activities – highly heterogeneous clinical presentation; Male to female ratio ~4:1.