AIMC Topic: Disease

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Comparing natural language processing representations of coded disease sequences for prediction in electronic health records.

Journal of the American Medical Informatics Association : JAMIA Jun 20, 2024
OBJECTIVE: Natural language processing (NLP) algorithms are increasingly being applied to obtain unsupervised representations of electronic health record (EHR) data, but their comparative performance at predicting clinical endpoints remains unclear. ...
Natural Language Processing Disease Electronic Health Records Humans Female Algorithms England Cohort Studies Male
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MACC: a visual interactive knowledgebase of metabolite-associated cell communications.

Nucleic acids research Jan 5, 2024
Metabolite-associated cell communications play critical roles in maintaining the normal biological function of human through coordinating cells, organs and physiological systems. Though substantial information of MACCs has been continuously reported,...
Humans Metabolome Disease Cell Communication Knowledge Bases
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Enhancing Semantic and Structure Modeling of Diseases for Diagnosis Prediction.

AMIA ... Annual Symposium proceedings. AMIA Symposium Jan 1, 2024
Electronic Health Records (EHRs) are valuable healthcare data, aiding researchers and doctors in improving diagnosis accuracy. Researchers have developed several predictive models by learning disease representations to forecast the potential diagnosi...
Humans Machine Learning International Classification of Diseases Electronic Health Records Disease Diagnosis Natural Language Processing Semantics
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Prediction of disease-associated nsSNPs by integrating multi-scale ResNet models with deep feature fusion.

Briefings in bioinformatics Jan 17, 2022
More than 6000 human diseases have been recorded to be caused by non-synonymous single nucleotide polymorphisms (nsSNPs). Rapid and accurate prediction of pathogenic nsSNPs can improve our understanding of the principle and design of new drugs, which...
Area Under Curve Deep Learning Humans Mutation Algorithms Polymorphism, Single Nucleotide Disease Pharmaceutical Preparations Cellular Microenvironment Computational Biology
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Predicting miRNA-disease associations using an ensemble learning framework with resampling method.

Briefings in bioinformatics Jan 17, 2022
MOTIVATION: Accumulating evidences have indicated that microRNA (miRNA) plays a crucial role in the pathogenesis and progression of various complex diseases. Inferring disease-associated miRNAs is significant to explore the etiology, diagnosis and tr...
Computational Biology MicroRNAs Disease Algorithms Genetic Predisposition to Disease Genetic Association Studies Humans Machine Learning
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HINGRL: predicting drug-disease associations with graph representation learning on heterogeneous information networks.

Briefings in bioinformatics Jan 17, 2022
Identifying new indications for drugs plays an essential role at many phases of drug research and development. Computational methods are regarded as an effective way to associate drugs with new indications. However, most of them complete their tasks ...
Computational Biology Models, Theoretical Drug Repositioning Machine Learning Algorithms Information Services Pharmaceutical Preparations Disease Humans Neural Networks, Computer
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Decoding the effects of synonymous variants.

Nucleic acids research Dec 16, 2021
Synonymous single nucleotide variants (sSNVs) are common in the human genome but are often overlooked. However, sSNVs can have significant biological impact and may lead to disease. Existing computational methods for evaluating the effect of sSNVs su...
Proteins Genetic Variation Disease Humans RNA Splicing Genome, Human Machine Learning
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DeepCNV: a deep learning approach for authenticating copy number variations.

Briefings in bioinformatics Sep 2, 2021
Copy number variations (CNVs) are an important class of variations contributing to the pathogenesis of many disease phenotypes. Detecting CNVs from genomic data remains difficult, and the most currently applied methods suffer from an unacceptably hig...
Disease Genome, Human False Positive Reactions Area Under Curve ROC Curve Humans Benchmarking DNA Copy Number Variations Datasets as Topic Deep Learning
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Recent advances in network-based methods for disease gene prediction.

Briefings in bioinformatics Jul 20, 2021
Disease-gene association through genome-wide association study (GWAS) is an arduous task for researchers. Investigating single nucleotide polymorphisms that correlate with specific diseases needs statistical analysis of associations. Considering the ...
Databases, Nucleic Acid Genome-Wide Association Study Polymorphism, Single Nucleotide Humans Disease Machine Learning
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Deep-DRM: a computational method for identifying disease-related metabolites based on graph deep learning approaches.

Briefings in bioinformatics Jul 20, 2021
MOTIVATION: The functional changes of the genes, RNAs and proteins will eventually be reflected in the metabolic level. Increasing number of researchers have researched mechanism, biomarkers and targeted drugs by metabolites. However, compared with o...
Disease Computational Biology Metabolism Humans Deep Learning Neural Networks, Computer Gene Regulatory Networks
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