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Genetic Predisposition to Disease

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Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing.

Cells Nov 26, 2019
Defects in pre-mRNA splicing are frequently a cause of Mendelian disease. Despite the advent of next-generation sequencing, allowing a deeper insight into a patient's variant landscape, the ability to characterize variants causing splicing defects ha...
RNA Splicing Humans Machine Learning Genomics Genetic Variation Genetic Predisposition to Disease Molecular Sequence Annotation Computational Biology RNA Precursors Models, Biological
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DualWMDR: Detecting epistatic interaction with dual screening and multifactor dimensionality reduction.

Human mutation Nov 25, 2019
Detecting epistatic interaction is a typical way of identifying the genetic susceptibility of complex diseases. Multifactor dimensionality reduction (MDR) is a decent solution for epistasis detection. Existing MDR-based methods still suffer from high...
Humans Algorithms Genetic Predisposition to Disease Genetic Loci Macular Degeneration Epistasis, Genetic Polymorphism, Single Nucleotide Multifactor Dimensionality Reduction Computational Biology Models, Genetic Databases, Genetic
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Genetic Variation in Cytochrome P450 2R1 and Vitamin D Binding Protein Genes are associated with Vitamin D Deficiency in Adolescents.

International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition Nov 15, 2019
Genome Wide Association Studies (GWAS) have evaluated several genes related to vitamin D synthesis, metabolism and transport. They have proposed a genetic basis for low levels of vitamin D in the blood. The current study aims to investigate the rela...
Cytochrome P450 Family 2 Vitamin D-Binding Protein Polymorphism, Single Nucleotide Genotype Vitamin D Case-Control Studies Vitamin D Deficiency Iran Adolescent Cholestanetriol 26-Monooxygenase Genome-Wide Association Study Cytochrome P-450 Enzyme System Genetic Predisposition to Disease Humans Female Male
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Identification of a blood-based 12-gene signature that predicts the severity of coronary artery stenosis: An integrative approach based on gene network construction, Support Vector Machine algorithm, and multi-cohort validation.

Atherosclerosis Oct 9, 2019
BACKGROUND AND AIMS: We aimed to identify a blood-based gene expression score (GES) to predict the severity of coronary artery stenosis in patients with known or suspected coronary artery disease (CAD) by integrative use of gene network construction,...
Humans Decision Support Techniques Phenotype Retrospective Studies Male Middle Aged Severity of Illness Index Gene Expression Profiling Female Reproducibility of Results Risk Factors Aged Coronary Stenosis Genetic Predisposition to Disease Transcriptome Nomograms China Support Vector Machine Gene Regulatory Networks Predictive Value of Tests
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LDAPred: A Method Based on Information Flow Propagation and a Convolutional Neural Network for the Prediction of Disease-Associated lncRNAs.

International journal of molecular sciences Sep 10, 2019
Long non-coding RNAs (lncRNAs) play a crucial role in the pathogenesis and development of complex diseases. Predicting potential lncRNA-disease associations can improve our understanding of the molecular mechanisms of human diseases and help identify...
Computational Biology MicroRNAs RNA, Long Noncoding Reproducibility of Results Sensitivity and Specificity Neoplasms Genetic Predisposition to Disease Humans Neural Networks, Computer Algorithms
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Prediction of Potential miRNA-Disease Associations Through a Novel Unsupervised Deep Learning Framework with Variational Autoencoder.

Cells Sep 6, 2019
The important role of microRNAs (miRNAs) in the formation, development, diagnosis, and treatment of diseases has attracted much attention among researchers recently. In this study, we present an unsupervised deep learning model of the variational aut...
Genetic Predisposition to Disease MicroRNAs Unsupervised Machine Learning Humans Software Deep Learning Genome-Wide Association Study
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LncRNA-Disease Associations Prediction Using Bipartite Local Model With Nearest Profile-Based Association Inferring.

IEEE journal of biomedical and health informatics Aug 28, 2019
There is much evidence that long non-coding RNA (lncRNA) is associated with many diseases. However, it is time-consuming and expensive to identify meaningful lncRNA-disease associations (LDAs) through medical or biological experiments. Therefore, inv...
Humans Neoplasms Genetic Predisposition to Disease Computational Biology RNA, Long Noncoding Models, Statistical Supervised Machine Learning
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Inferring the Disease-Associated miRNAs Based on Network Representation Learning and Convolutional Neural Networks.

International journal of molecular sciences Jul 25, 2019
Identification of disease-associated miRNAs (disease miRNAs) are critical for understanding etiology and pathogenesis. Most previous methods focus on integrating similarities and associating information contained in heterogeneous miRNA-disease networ...
Databases, Genetic MicroRNAs Models, Biological Deep Learning ROC Curve Genetic Predisposition to Disease Computational Biology Humans Neural Networks, Computer Algorithms
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Using game theory and decision decomposition to effectively discern and characterise bi-locus diseases.

Artificial intelligence in medicine Jul 23, 2019
In order to gain insight into oligogenic disorders, understanding those involving bi-locus variant combinations appears to be key. In prior work, we showed that features at multiple biological scales can already be used to discriminate among two type...
Machine Learning Genetic Predisposition to Disease Decision Trees Game Theory Humans Multifactorial Inheritance
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Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data.

Scientific reports Jul 17, 2019
Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The recent development of machin...
Deep Learning Genome-Wide Association Study ROC Curve Genetic Predisposition to Disease Polymorphism, Single Nucleotide Genotype Logistic Models Humans Neural Networks, Computer Female Male INDEL Mutation Crohn Disease Models, Genetic Alleles Decision Trees Nonlinear Dynamics Area Under Curve Genotyping Techniques
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