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Genetic Predisposition to Disease

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Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism.

Genetics in medicine : official journal of the American College of Medical Genetics
PurposeRecognizing individuals with inherited diseases can be difficult because signs and symptoms often overlap those of common medical conditions. Focusing on inborn errors of metabolism (IEMs), we present a method that brings the knowledge of high...

Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants.

Scientific reports
Disease and trait-associated variants represent a tiny minority of all known genetic variation, and therefore there is necessarily an imbalance between the small set of available disease-associated and the much larger set of non-deleterious genomic v...

Genetic Variation in CD36 Is Associated with Decreased Fat and Sugar Intake in Obese Children and Adolescents.

Journal of nutrigenetics and nutrigenomics
BACKGROUND/AIMS: Taste is recognized as an important predictor of food choices. Thus, polymorphisms in genes encoding taste receptors may explain the variability in food preference and intake. Here, we aimed to determine whether genetic variation in ...

Bayesian Machine Learning Techniques for revealing complex interactions among genetic and clinical factors in association with extra-intestinal Manifestations in IBD patients.

AMIA ... Annual Symposium proceedings. AMIA Symposium
The objective of the study is to assess the predictive performance of three different techniques as classifiers for extra-intestinal manifestations in 152 patients with Crohn's disease. Naïve Bayes, Bayesian Additive Regression Trees and Bayesian Net...

Tensor Factorization for Precision Medicine in Heart Failure with Preserved Ejection Fraction.

Journal of cardiovascular translational research
Heart failure with preserved ejection fraction (HFpEF) is a heterogeneous clinical syndrome that may benefit from improved subtyping in order to better characterize its pathophysiology and to develop novel targeted therapies. The United States Precis...

Automated Detection of Cancer Associated Genes Using a Combined Fuzzy-Rough-Set-Based F-Information and Water Swirl Algorithm of Human Gene Expression Data.

PloS one
This study describes a novel approach to reducing the challenges of highly nonlinear multiclass gene expression values for cancer diagnosis. To build a fruitful system for cancer diagnosis, in this study, we introduced two levels of gene selection su...

Integrating network, sequence and functional features using machine learning approaches towards identification of novel Alzheimer genes.

BMC genomics
BACKGROUND: Alzheimer's disease (AD) is a complex progressive neurodegenerative disorder commonly characterized by short term memory loss. Presently no effective therapeutic treatments exist that can completely cure this disease. The cause of Alzheim...

ANN Prediction of Metabolic Syndrome: a Complex Puzzle that will be Completed.

Journal of medical systems
The diagnosis of metabolic syndrome (MetS) has a leading role in the early prevention of chronic disease, such as cardiovascular disease, type 2 diabetes, cancers and chronic kidney disease. It would be very greatful that MetS diagnosis can be predic...

Annotating the Function of the Human Genome with Gene Ontology and Disease Ontology.

BioMed research international
Increasing evidences indicated that function annotation of human genome in molecular level and phenotype level is very important for systematic analysis of genes. In this study, we presented a framework named Gene2Function to annotate Gene Reference ...

Use of a Novel Nonparametric Version of DEPTH to Identify Genomic Regions Associated with Prostate Cancer Risk.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
BACKGROUND: We have developed a genome-wide association study analysis method called DEPTH (DEPendency of association on the number of Top Hits) to identify genomic regions potentially associated with disease by considering overlapping groups of cont...