AIMC Topic: Disease

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Systematic analysis of binding of transcription factors to noncoding variants.

Nature Jan 27, 2021
Many sequence variants have been linked to complex human traits and diseases, but deciphering their biological functions remains challenging, as most of them reside in noncoding DNA. Here we have systematically assessed the binding of 270 human trans...
Humans Protein Binding Polymorphism, Single Nucleotide Genome, Human Disease Binding Sites SELEX Aptamer Technique Transcription Factors Support Vector Machine Ligands
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Transfer learning with chest X-rays for ER patient classification.

Scientific reports Dec 1, 2020
One of the challenges with urgent evaluation of patients with acute respiratory distress syndrome (ARDS) in the emergency room (ER) is distinguishing between cardiac vs infectious etiologies for their pulmonary findings. We conducted a retrospective ...
Radiography, Thoracic Patients Disease Humans Retrospective Studies Deep Learning Respiratory Distress Syndrome Emergency Service, Hospital
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Host variables confound gut microbiota studies of human disease.

Nature Nov 4, 2020
Low concordance between studies that examine the role of microbiota in human diseases is a pervasive challenge that limits the capacity to identify causal relationships between host-associated microorganisms and pathology. The risk of obtaining false...
Male Middle Aged Diet Aged, 80 and over Young Adult Adult Diabetes Mellitus, Type 2 Body Mass Index Gastrointestinal Microbiome RNA, Ribosomal, 16S Case-Control Studies Feces ROC Curve Humans Machine Learning Data Analysis Female Aged Confounding Factors, Epidemiologic Alcohol Drinking Disease Life Style Residence Characteristics Area Under Curve Gastrointestinal Motility
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Use of artificial intelligence to recover mandibular morphology after disease.

Scientific reports Oct 2, 2020
Mandibular tumors and radical oral cancer surgery often cause bone dysmorphia and defects. Most patients present with noticeable mandibular deformations, and doctors often have difficulty determining their exact mandibular morphology. In this study, ...
Disease Female Male Mandible Humans Artificial Intelligence Tomography, X-Ray Computed
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Evaluating the informativeness of deep learning annotations for human complex diseases.

Nature communications Sep 17, 2020
Deep learning models have shown great promise in predicting regulatory effects from DNA sequence, but their informativeness for human complex diseases is not fully understood. Here, we evaluate genome-wide SNP annotations from two previous deep learn...
Models, Genetic Alleles Genome, Human Histones Linkage Disequilibrium Genome-Wide Association Study Disease Humans Genetic Predisposition to Disease Molecular Sequence Annotation Phenotype Polymorphism, Single Nucleotide Deep Learning
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MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals.

Genomics, proteomics & bioinformatics Sep 8, 2020
Mosaic variants resulting from postzygotic mutations are prevalent in the human genome and play important roles in human diseases. However, except for cancer-related variants, there is no collection of postzygotic mosaic variants in noncancer disease...
Knowledge Bases User-Computer Interface Disease Databases, Genetic Genome, Human Health Mutation Zygote Mosaicism Humans Software Phenotype
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iPiDA-sHN: Identification of Piwi-interacting RNA-disease associations by selecting high quality negative samples.

Computational biology and chemistry Aug 29, 2020
As a large group of small non-coding RNAs (ncRNAs), Piwi-interacting RNAs (piRNAs) have been detected to be associated with various diseases. Identifying disease associated piRNAs can provide promising candidate molecular targets to promote the drug ...
Disease Humans Neural Networks, Computer RNA, Small Interfering
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Medical Information Extraction in the Age of Deep Learning.

Yearbook of medical informatics Aug 21, 2020
OBJECTIVES: We survey recent developments in medical Information Extraction (IE) as reported in the literature from the past three years. Our focus is on the fundamental methodological paradigm shift from standard Machine Learning (ML) techniques to ...
Disease Humans Neural Networks, Computer Drug Interactions Datasets as Topic Deep Learning Information Storage and Retrieval Natural Language Processing Medical Informatics Pharmaceutical Preparations
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Structuring, reuse and analysis of electronic dental data using the Oral Health and Disease Ontology.

Journal of biomedical semantics Aug 20, 2020
BACKGROUND: A key challenge for improving the quality of health care is to be able to use a common framework to work with patient information acquired in any of the health and life science disciplines. Patient information collected during dental care...
Biological Ontologies Electronic Health Records Disease Oral Health
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Identifying disease trajectories with predicate information from a knowledge graph.

Journal of biomedical semantics Aug 20, 2020
BACKGROUND: Knowledge graphs can represent the contents of biomedical literature and databases as subject-predicate-object triples, thereby enabling comprehensive analyses that identify e.g. relationships between diseases. Some diseases are often dia...
ROC Curve Information Storage and Retrieval Semantics Biological Ontologies Disease Computer Graphics Humans
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