AIMC Topic: Phenotype

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Phenotypic Clustering of Left Ventricular Diastolic Function Parameters: Patterns and Prognostic Relevance.

JACC. Cardiovascular imaging Apr 18, 2018
OBJECTIVES: This study sought to explore the natural clustering of echocardiographic variables used for assessing left ventricular (LV) diastolic dysfunction (DD) in order to isolate high-risk phenotypic patterns and assess their prognostic significa...
Cluster Analysis Predictive Value of Tests Cause of Death Heart Ventricles Middle Aged Risk Assessment Disease Progression Diastole Echocardiography, Doppler, Color Echocardiography, Doppler, Pulsed Progression-Free Survival Ventricular Dysfunction, Left Image Interpretation, Computer-Assisted Pattern Recognition, Automated Retrospective Studies Female Risk Factors Hospitalization Aged Aged, 80 and over Male Ventricular Function, Left Humans Machine Learning Phenotype
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Leveraging Collaborative Filtering to Accelerate Rare Disease Diagnosis.

AMIA ... Annual Symposium proceedings. AMIA Symposium Apr 16, 2018
In the USA, rare diseases are defined as those affecting fewer than 200,000 patients at any given time. Patients with rare diseases are frequently misdiagnosed or undiagnosed which may due to the lack of knowledge and experience of care providers. We...
Unified Medical Language System Electronic Health Records Symptom Assessment Humans Cohort Studies Rare Diseases Algorithms Natural Language Processing Phenotype Semantics
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Evaluation of Semantic Web Technologies for Storing Computable Definitions of Electronic Health Records Phenotyping Algorithms.

AMIA ... Annual Symposium proceedings. AMIA Symposium Apr 16, 2018
Electronic Health Records are electronic data generated during or as a byproduct of routine patient care. Structured, semi-structured and unstructured EHR offer researchers unprecedented phenotypic breadth and depth and have the potential to accelera...
Diabetes Mellitus Biological Ontologies Semantic Web Humans Algorithms Phenotype Precision Medicine Electronic Health Records
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Machine Learning Methods Improve Prognostication, Identify Clinically Distinct Phenotypes, and Detect Heterogeneity in Response to Therapy in a Large Cohort of Heart Failure Patients.

Journal of the American Heart Association Apr 12, 2018
BACKGROUND: Whereas heart failure (HF) is a complex clinical syndrome, conventional approaches to its management have treated it as a singular disease, leading to inadequate patient care and inefficient clinical trials. We hypothesized that applying ...
Male Ventricular Function, Left Stroke Volume Middle Aged Sweden Aged Aged, 80 and over Survival Rate Angiotensin Receptor Antagonists Humans Angiotensin-Converting Enzyme Inhibitors Machine Learning Cardiovascular Agents Algorithms Prognosis Adrenergic beta-Antagonists Phenotype Retrospective Studies Female Reproducibility of Results Follow-Up Studies Registries Heart Failure Diuretics
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Measuring phenotype-phenotype similarity through the interactome.

BMC bioinformatics Apr 11, 2018
BACKGROUND: Recently, measuring phenotype similarity began to play an important role in disease diagnosis. Researchers have begun to pay attention to develop phenotype similarity measurement. However, existing methods ignore the interactions between ...
Humans Databases, Genetic Proteins Gene Expression Regulation Algorithms Gene Ontology Phenotype Protein Interaction Maps
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Deep learning in mammography and breast histology, an overview and future trends.

Medical image analysis Mar 26, 2018
Recent improvements in biomedical image analysis using deep learning based neural networks could be exploited to enhance the performance of Computer Aided Diagnosis (CAD) systems. Considering the importance of breast cancer worldwide and the promisin...
Neural Networks, Computer Algorithms Forecasting Phenotype Female Sensitivity and Specificity Breast Neoplasms Diagnosis, Computer-Assisted Humans Deep Learning Mammography Radiographic Image Interpretation, Computer-Assisted
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Matching biomedical ontologies based on formal concept analysis.

Journal of biomedical semantics Mar 19, 2018
BACKGROUND: The goal of ontology matching is to identify correspondences between entities from different yet overlapping ontologies so as to facilitate semantic integration, reuse and interoperability. As a well developed mathematical model for analy...
Algorithms Phenotype Biological Ontologies Vocabulary, Controlled
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Brain-specific functional relationship networks inform autism spectrum disorder gene prediction.

Translational psychiatry Mar 6, 2018
Autism spectrum disorder (ASD) is a neuropsychiatric disorder with strong evidence of genetic contribution, and increased research efforts have resulted in an ever-growing list of ASD candidate genes. However, only a fraction of the hundreds of nomin...
Genome Rats Models, Genetic Databases, Genetic Humans Machine Learning Phenotype Autism Spectrum Disorder Animals Mice Genomics Genetic Predisposition to Disease
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Informatics and machine learning to define the phenotype.

Expert review of molecular diagnostics Feb 16, 2018
For the past decade, the focus of complex disease research has been the genotype. From technological advancements to the development of analysis methods, great progress has been made. However, advances in our definition of the phenotype have remained...
Phenotype Genome-Wide Association Study Genetic Predisposition to Disease Humans Machine Learning
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Functional Categorization of Disease Genes Based on Spectral Graph Theory and Integrated Biological Knowledge.

Interdisciplinary sciences, computational life sciences Jan 30, 2018
Interaction of multiple genetic variants is a major challenge in the development of effective treatment strategies for complex disorders. Identifying the most promising genes enhances the understanding of the underlying mechanisms of the disease, whi...
Computer Graphics Humans Algorithms Phenotype Autism Spectrum Disorder Knowledge Bases Probability Genome, Human Oligonucleotide Array Sequence Analysis Gene Expression Profiling Genomics Computational Biology Cluster Analysis
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