29 documents found, page 1 of 3
Identification of Neurotransmission and Synaptic Biological Processes Disrupted...
Vilela, Joana; Martiniano, Hugo; Marques, Ana Rita; Santos, João Xavier; Asif, Muhammad; Rasga, Célia; Oliveira, Guiomar; Vicente, Astrid MouraAutism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by communication deficits and repetitive behavioral patterns. Hundreds of candidate genes have been implicated in ASD, including neurotransmission and synaptic (NS) genes; however, the genetic architecture of this disease is far from clear. In this study, we seek to clarify the biological processes affected by NS gene variants identif...
Biomedical knowledge graph embeddings for personalized medicine: Predicting dis...
Vilela, Joana; Asif, Muhammad; Marques, Ana Rita; Santos, João Xavier; Rasga, Célia; Vicente, Astrid; Martiniano, HugoPersonalized medicine is a concept that has been subject of increasing interest in medical research and practice in the last few years. However, significant challenges stand in the way of practical implementations, namely in regard to extracting clinically valuable insights from the vast amount of biomedical knowledge generated in the last few years. Here, we describe an approach that uses Knowledge Graph Embed...
A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Support...
Santos, João Xavier; Rasga, Célia; Marques, Ana Rita; Martiniano, Hugo; Asif, Muhammad; Vilela, Joana; Oliveira, Guiomar; Sousa, Lisete; Nunes, AnaHeritability estimates support the contribution of genetics and the environment to the etiology of Autism Spectrum Disorder (ASD), but a role for gene-environment interactions is insufficiently explored. Genes involved in detoxification pathways and physiological permeability barriers (e.g., blood-brain barrier, placenta and respiratory airways), which regulate the effects of exposure to xenobiotics during earl...
Biomedical Knowledge Graph Embeddings for Personalized Medicine
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 access...
Aplicação de métodos de aprendizagem automática em grafos de conhecimento para ...
Vilela, Joana; Asif, Muhammad; Marques, Ana Rita; Santos, João Xavier; Rasga, Célia; Vicente, Astrid; Martiniano, HugoA Medicina Personalizada é um modelo de prática médica que utiliza o perfil fenotípico e genotípico do indivíduo para melhorar a precisão do diagnóstico, a eficácia terapêutica ou a prevenção de doenças. Neste sentido, a enorme quantidade de dados gerados ao longo dos últimos anos na área biomédica tem contribuído para uma melhor compreensão dos determinantes genéticos de várias patologias e, consequentemente, ...
Identification of biological mechanisms underlying a multidimensional ASD pheno...
Asif, Muhammad; Martiniano, Hugo F. M. C.; Marques, Ana Rita; Santos, João Xavier; Vilela, Joana; Rasga, Celia; Oliveira, Guiomar; Couto, Francisco M.The complex genetic architecture of Autism Spectrum Disorder (ASD) and its heterogeneous phenotype makes molecular diagnosis and patient prognosis challenging tasks. To establish more precise genotype-phenotype correlations in ASD, we developed a novel machine-learning integrative approach, which seeks to delineate associations between patients' clinical profiles and disrupted biological processes, inferred fro...
Identification of biological mechanisms underlying a multidimensional ASD pheno...
Asif, Muhammad; Martiniano, Hugo F.M.C.; Marques, Ana Rita; Santos, João Xavier; Vilela, Joana; Rasga, Celia; Oliveira, Guiomar; Couto, Francisco M.The complex genetic architecture of Autism Spectrum Disorder (ASD) and its heterogeneous phenotype makes molecular diagnosis and patient prognosis challenging tasks. To establish more precise genotype-phenotype correlations in ASD, we developed a novel machine-learning integrative approach, which seeks to delineate associations between patients' clinical profiles and disrupted biological processes, inferred fro...
Low complexity high efficiency coding of light fields using ensemble classifiers
Tahir, Muhammad; Taj, Imtiaz A.; Assuncao, Pedro A.; Asif, MuhammadLight field images can be efficiently compressed using standard video codecs, such as the High Efficiency Video Coding (HEVC). However, the huge amount of data combined with the high computational complexity of HEVC, poses limitations on high-speed light field capturing and storage. This paper presents a contribution for low complexity encoding of light fields, in different formats using HEVC, based on a Random...
Identification of disease risk variants in neurotransmission and synaptic genes...
Vilela, Joana; Martiniano, Hugo; Luzia, Sonija; Marques, Ana Rita; Santos, João; Asif, Muhammad; Rasga, Célia; Oliveira, Guiomar; Vicente, Astrid M.Background: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder which affects the brain structure and the proper establishment of the neuronal connectivity. The criteria of diagnosis are the presence of social communication deficits and restricted, repetitive patterns of behavior. ASD has a strong genetic component but, despite the reports of putative risk genes, the genetics underlying the disease ...
Antidiabetic activity of aqueous extract of Sigesbeckia orientalis (St. Paul’s ...
Asif, Muhammad; Saleem, Mohammad; Yousaf, Sobia; Saadullah, Malik; Zafar, Memoona; Khan, Rizwan Ullah; Yuchi, AlamgeerThe current study evaluated antidiabetic and antihyperlipidemic activities of aqueous extract of Sigesbeckia orientalis L. (St. Paul’s Wort) (AESO) in an alloxan-induced diabetic rat model. Following OECD guidelines safe doses of AESO were assessed in rats for the main study. Serum/bood glucose, α-amylase, and lipids levels and histopathological evaluations were conducted to assess antidiabetic and associated a...