AIMC Topic: Phenotype

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Machine learning in cardiovascular medicine: are we there yet?

Heart (British Cardiac Society) Jan 19, 2018
Artificial intelligence (AI) broadly refers to analytical algorithms that iteratively learn from data, allowing computers to find hidden insights without being explicitly programmed where to look. These include a family of operations encompassing sev...
Humans Clinical Trials as Topic Cardiology Genetic Predisposition to Disease Causality Registries Big Data Datasets as Topic Diagnostic Imaging Genomics Machine Learning Phenotype
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WorMachine: machine learning-based phenotypic analysis tool for worms.

BMC biology Jan 16, 2018
BACKGROUND: Caenorhabditis elegans nematodes are powerful model organisms, yet quantification of visible phenotypes is still often labor-intensive, biased, and error-prone. We developed WorMachine, a three-step MATLAB-based image analysis software th...
Machine Learning Phenotype Female Genetic Testing Optical Imaging Caenorhabditis elegans Animals Male
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Annotation of phenotypes using ontologies: a gold standard for the training and evaluation of natural language processing systems.

Database : the journal of biological databases and curation Jan 1, 2018
Natural language descriptions of organismal phenotypes, a principal object of study in biology, are abundant in the biological literature. Expressing these phenotypes as logical statements using ontologies would enable large-scale analysis on phenoty...
Humans Phenotype Gene Ontology Data Curation Natural Language Processing Data Mining
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Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers.

Gene Dec 28, 2017
Non-syndromic stuttering is a neurodevelopmental disorder characterized by disruptions in normal flow of speech in the form of repetition, prolongation and involuntary halts. Previously, mutations with more severe effects on GNPTAB and GNPTG have bee...
Mucolipidoses Phosphoric Diester Hydrolases Stuttering Homozygote Female Child, Preschool Introns Humans Male Transferases (Other Substituted Phosphate Groups) Child Genetic Predisposition to Disease Phenotype Mutation Heterozygote
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Selecting Feature Subsets Based on SVM-RFE and the Overlapping Ratio with Applications in Bioinformatics.

Molecules (Basel, Switzerland) Dec 26, 2017
Feature selection is an important topic in bioinformatics. Defining informative features from complex high dimensional biological data is critical in disease study, drug development, etc. Support vector machine-recursive feature elimination (SVM-RFE)...
Phenotype Biomarkers Support Vector Machine Disease Computational Biology Humans Algorithms
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Integrating phenotype ontologies with PhenomeNET.

Journal of biomedical semantics Dec 19, 2017
BACKGROUND: Integration and analysis of phenotype data from humans and model organisms is a key challenge in building our understanding of normal biology and pathophysiology. However, the range of phenotypes and anatomical details being captured in c...
Disease Phenotype Biological Ontologies
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A biological network-based regularized artificial neural network model for robust phenotype prediction from gene expression data.

BMC bioinformatics Dec 19, 2017
BACKGROUND: Stratification of patient subpopulations that respond favorably to treatment or experience and adverse reaction is an essential step toward development of new personalized therapies and diagnostics. It is currently feasible to generate om...
Gene Expression Regulation Phenotype Reproducibility of Results Models, Theoretical Support Vector Machine Gene Regulatory Networks Humans Neural Networks, Computer
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Identifying genotype-phenotype relationships in biomedical text.

Journal of biomedical semantics Dec 6, 2017
BACKGROUND: One important type of information contained in biomedical research literature is the newly discovered relationships between phenotypes and genotypes. Because of the large quantity of literature, a reliable automatic system to identify thi...
Biomedical Research Genotype Biological Ontologies Phenotype Databases, Factual Machine Learning
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Matching disease and phenotype ontologies in the ontology alignment evaluation initiative.

Journal of biomedical semantics Dec 2, 2017
BACKGROUND: The disease and phenotype track was designed to evaluate the relative performance of ontology matching systems that generate mappings between source ontologies. Disease and phenotype ontologies are important for applications such as data ...
Disease Consensus Biological Ontologies Humans Phenotype
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Identifying Human Phenotype Terms by Combining Machine Learning and Validation Rules.

BioMed research international Nov 9, 2017
Named-Entity Recognition is commonly used to identify biological entities such as proteins, genes, and chemical compounds found in scientific articles. The Human Phenotype Ontology (HPO) is an ontology that provides a standardized vocabulary for phen...
Data Mining Machine Learning Biological Ontologies Phenotype Reproducibility of Results Humans
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