DPSPDNT - Apresentações orais em encontros internacionais
URI permanente para esta coleção:
Navegar
Percorrer DPSPDNT - Apresentações orais em encontros internacionais por autor "Asif, Muhammad"
A mostrar 1 - 4 de 4
Resultados por página
Opções de ordenação
- 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
- Comprehensive Genetic Analysis Provides Novel Insights Into The MicroRNA Regulatory Landscape of Autism Spectrum DisorderPublication . Marques, Ana Rita; Martiniano, Hugo; Santos, João Xavier; Vilela, Joana; Asif, Muhammad; Sousa, Lisete; Oliveira, Guiomar; Vicente, Astrid MouraBackground: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component. Many risk genes are associated with ASD, however most of the genetic determinants are still unknown and a role for gene regulatory mechanisms is likely. MicroRNAs (miRNAs) regulate gene expression, playing key roles in neural development and function, and have been implicated in ASD onset and progression. Methods: To identify miRNA potentially associated with ASD, we conducted a comprehensive analysis of Single Nucleotide Variants (SNVs) and Copy Number Variants (CNVs) from ASD patients (N = 4300 and N = 3570, respectively) and control subjects (N = 67442 and N = 9649, respectively). We further performed functional enrichment analysis to understand the functional impact of these miRNAs variants. Results: Our results identified 28 miRNAs significantly enriched for putative disrupted SNVs and 31 miRNAs exclusively or more frequently targeted by CNVs in ASD cases, when compared to controls (α=0.05). These genes encode 70 mature miRNAs, including some novel and others previously implicated in ASD, that are predicted to target 2745 brain-expressed genes. Functional analysis indicates they are enriched in processes such as cellular signaling, gene regulation, protein metabolism, and chromatin structure, all of which are critical for ASD development. Interestingly, 44 of the identified miRNAs are predicted to regulate 71 genes strongly associated with increased ASD risk. Conclusion: This comprehensive gene-based analysis highlights miRNAs that regulate gene networks and cellular pathways essential for brain function and plasticity, which are often disrupted in ASD patients.
- 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.