AIMC Topic: Phenotype

Clear Filters Showing 441 to 450 of 922 articles

Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.

American journal of human genetics Sep 9, 2020
Exome sequencing in diabetes presents a diagnostic challenge because depending on frequency, functional impact, and genomic and environmental contexts, HNF1A variants can cause maturity-onset diabetes of the young (MODY), increase type 2 diabetes ris...
Genetic Predisposition to Disease Cluster Analysis Hepatocyte Nuclear Factor 1-alpha Unsupervised Machine Learning Principal Component Analysis Male Adolescent Child Diabetes Mellitus, Type 2 Norway Exome Sequencing Mutation, Missense Gene Expression Registries Alleles Datasets as Topic United Kingdom Humans Phenotype Female Young Adult Adult
View on PubMed DOI

Computer versus cardiologist: Is a machine learning algorithm able to outperform an expert in diagnosing a phospholamban p.Arg14del mutation on the electrocardiogram?

Heart rhythm Sep 8, 2020
BACKGROUND: Phospholamban (PLN) p.Arg14del mutation carriers are known to develop dilated and/or arrhythmogenic cardiomyopathy, and typical electrocardiographic (ECG) features have been identified for diagnosis. Machine learning is a powerful tool us...
DNA Mutational Analysis Calcium-Binding Proteins Arrhythmogenic Right Ventricular Dysplasia Cardiologists Humans Clinical Competence Machine Learning Adolescent Algorithms Electrocardiography Computers DNA Phenotype Young Adult Mutation Retrospective Studies Adult Female Male Reproducibility of Results Middle Aged
View on PubMed DOI

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...
Disease Databases, Genetic Mutation Health Humans Knowledge Bases Mosaicism Genome, Human Software Zygote Phenotype User-Computer Interface
View on PubMed DOI

Predicting Progression to Advanced Age-Related Macular Degeneration from Clinical, Genetic, and Lifestyle Factors Using Machine Learning.

Ophthalmology Sep 2, 2020
PURPOSE: Current prediction models for advanced age-related macular degeneration (AMD) are based on a restrictive set of risk factors. The objective of this study was to develop a comprehensive prediction model applying a machine learning algorithm a...
Humans Machine Learning Models, Theoretical Area Under Curve Macular Degeneration Life Style Retinal Drusen Genetics Aged Phenotype Male Clinical Decision-Making Middle Aged Female Disease Progression Risk Factors Genotype
View on PubMed DOI

Prognostic importance of Kidney, Heart and Interstitial lung diseases (KHI triad) in PH: A machine learning study.

Archives of cardiovascular diseases Sep 2, 2020
BACKGROUND: Pulmonary hypertension (PH) is a heterogeneous, severe and progressive disease with an impact on quality of life and life-expectancy despite specific therapies.
Aged Aged, 80 and over Male Middle Aged Risk Assessment Prospective Studies Prognosis Female Risk Factors Lung Diseases, Interstitial Data Mining Heart Diseases France Pulmonary Arterial Hypertension Comorbidity Health Status Humans Cluster Analysis Machine Learning Kidney Diseases Phenotype Registries
View on PubMed DOI

Deep Learning Applied to Phenotyping of Biomass in Forages with UAV-Based RGB Imagery.

Sensors (Basel, Switzerland) Aug 26, 2020
Monitoring biomass of forages in experimental plots and livestock farms is a time-consuming, expensive, and biased task. Thus, non-destructive, accurate, precise, and quick phenotyping strategies for biomass yield are needed. To promote high-throughp...
Remote Sensing Technology Phenotype Animals Plants Biomass Animal Feed Brazil Livestock Deep Learning
View on PubMed DOI

A Genome-Based Model to Predict the Virulence of Pseudomonas aeruginosa Isolates.

mBio Aug 25, 2020
Variation in the genome of , an important pathogen, can have dramatic impacts on the bacterium's ability to cause disease. We therefore asked whether it was possible to predict the virulence of isolates based on their genomic content. We applied a m...
Algorithms Phenotype Female Animals Mice Machine Learning Proof of Concept Study Pseudomonas Infections Genome, Bacterial Genomics Bacteremia Mice, Inbred BALB C Virulence Pseudomonas aeruginosa
View on PubMed DOI

Assessment of and polymorphisms in age-related macular degeneration using classic and machine-learning approaches.

Ophthalmic genetics Aug 24, 2020
BACKGROUND: and are pivotal genes driving increased risk for age-related macular degeneration (AMD) among several populations. Here, we performed a hospital-based case-control study to evaluate the effects of three single nucleotide polymorphisms (...
Complement Factor H High-Temperature Requirement A Serine Peptidase 1 Humans Case-Control Studies Genetic Predisposition to Disease Phenotype Machine Learning Polymorphism, Single Nucleotide Female Macular Degeneration Aged Ethnicity Male
View on PubMed DOI

Challenges and Opportunities in Machine-Augmented Plant Stress Phenotyping.

Trends in plant science Aug 20, 2020
Plant stress phenotyping is essential to select stress-resistant varieties and develop better stress-management strategies. Standardization of visual assessments and deployment of imaging techniques have improved the accuracy and reliability of stres...
Machine Learning Phenotype Reproducibility of Results Crops, Agricultural
View on PubMed DOI

Predicting bovine tuberculosis status of dairy cows from mid-infrared spectral data of milk using deep learning.

Journal of dairy science Aug 20, 2020
Bovine tuberculosis (bTB) is a zoonotic disease in cattle that is transmissible to humans, distributed worldwide, and considered endemic throughout much of England and Wales. Mid-infrared (MIR) analysis of milk is used routinely to predict fat and pr...
Neural Networks, Computer Scotland Cattle Phenotype Sensitivity and Specificity Tuberculosis, Bovine Predictive Value of Tests Female Animals Lactation Deep Learning Milk England Spectrophotometry, Infrared
View on PubMed DOI
Popular Topics
Recent Journals