AIMC Topic: Polymorphism, Single Nucleotide

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Estimation of allele-specific fitness effects across human protein-coding sequences and implications for disease.

Genome research Jun 27, 2019
A central challenge in human genomics is to understand the cellular, evolutionary, and clinical significance of genetic variants. Here, we introduce a unified population-genetic and machine-learning model, called inear llele-pecific election nferenc ...
Genetics, Population Inheritance Patterns Genetic Fitness Genetic Variation Base Sequence Genome, Human Selection, Genetic Proteome Models, Genetic Alleles Humans Machine Learning Autism Spectrum Disorder Neoplasms Genomics Polymorphism, Single Nucleotide
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Computational and artificial neural network based study of functional SNPs of human LEPR protein associated with reproductive function.

Journal of cellular biochemistry Jun 25, 2019
Genetic polymorphisms are mostly associated with inherited diseases, detecting and analyzing the biological significance of functional single-nucleotide polymorphisms (SNPs) using wet laboratory experiments is an arduous task hence the computational ...
Amino Acid Substitution Mutation, Missense Receptors, Leptin Infertility Humans Neural Networks, Computer Molecular Docking Simulation Polymorphism, Single Nucleotide Protein Domains
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Analysis of the Deleterious Single Nucleotide Polymorphisms Impact on Estrogen Receptor Alpha-p53 Interaction: A Machine Learning Approach.

International journal of molecular sciences Jun 18, 2019
Breast cancer is a leading cancer type and one of the major health issues faced by women around the world. Some of its major risk factors include body mass index, hormone replacement therapy, family history and germline mutations. Of these risk facto...
Humans Neural Networks, Computer Machine Learning Molecular Docking Simulation Mutation Molecular Dynamics Simulation Tumor Suppressor Protein p53 Protein Conformation Protein Binding Polymorphism, Single Nucleotide Computational Biology Structure-Activity Relationship Estrogen Receptor alpha Protein Interaction Domains and Motifs
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fastJT: An R package for robust and efficient feature selection for machine learning and genome-wide association studies.

BMC bioinformatics Jun 13, 2019
BACKGROUND: Parametric feature selection methods for machine learning and association studies based on genetic data are not robust with respect to outliers or influential observations. While rank-based, distribution-free statistics offer a robust alt...
Quantitative Trait, Heritable Computer Simulation Genome-Wide Association Study Polymorphism, Single Nucleotide Blood Proteins Machine Learning Algorithms
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Machine-learning to stratify diabetic patients using novel cardiac biomarkers and integrative genomics.

Cardiovascular diabetology Jun 11, 2019
BACKGROUND: Diabetes mellitus is a chronic disease that impacts an increasing percentage of people each year. Among its comorbidities, diabetics are two to four times more likely to develop cardiovascular diseases. While HbA1c remains the primary dia...
Polymorphism, Single Nucleotide Epigenesis, Genetic Models, Genetic Support Vector Machine Disease Progression Diabetes Mellitus, Type 2 Genomics Genetic Predisposition to Disease CpG Islands Systems Integration Mitochondria, Heart Diabetic Cardiomyopathies DNA Methylation Glycated Hemoglobin Genetic Markers DNA, Mitochondrial Humans Risk Factors Prognosis Male Female Middle Aged Risk Assessment
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Pre-Treatment Biomarkers of Anti-Tumour Necrosis Factor Therapy Response in Crohn's Disease-A Systematic Review and Gene Ontology Analysis.

Cells May 28, 2019
The most prominent treatment for the serious cases of Crohn's disease (CD) are biological tumour necrosis factor (TNF) inhibitors. Unfortunately, therapy nonresponse is still a serious issue in ~1/3 of CD patients. Accurate prediction of responsivene...
Genome, Human Biomarkers Gene Ontology Polymorphism, Single Nucleotide Crohn Disease RNA Humans Tumor Necrosis Factor-alpha
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A directed learning strategy integrating multiple omic data improves genomic prediction.

Plant biotechnology journal Apr 14, 2019
Genomic prediction (GP) aims to construct a statistical model for predicting phenotypes using genome-wide markers and is a promising strategy for accelerating molecular plant breeding. However, current progress of phenotype prediction using genomic d...
Genomics Supervised Machine Learning Metabolome Polymorphism, Single Nucleotide Quantitative Trait Loci Phenotype Oryza Models, Genetic Transcriptome Genetic Markers Models, Statistical
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DeepHistone: a deep learning approach to predicting histone modifications.

BMC genomics Apr 4, 2019
MOTIVATION: Quantitative detection of histone modifications has emerged in the recent years as a major means for understanding such biological processes as chromosome packaging, transcriptional activation, and DNA damage. However, high-throughput exp...
Protein Processing, Post-Translational Gene Expression Regulation Histones Chromosome Mapping Humans Deep Learning Polymorphism, Single Nucleotide Epigenomics Chromatin Chromatin Immunoprecipitation
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Application of Single-Nucleotide Polymorphisms in the Diagnosis of Autism Spectrum Disorders: A Preliminary Study with Artificial Neural Networks.

Journal of molecular neuroscience : MN Apr 1, 2019
Autism spectrum disorder (ASD) includes different neurodevelopmental disorders characterized by deficits in social communication, and restricted, repetitive patterns of behavior, interests or activities. Based on the importance of early diagnosis for...
Female Sensitivity and Specificity Male Deep Learning Child Polymorphism, Single Nucleotide Genetic Testing Receptors, GABA-A Humans Autism Spectrum Disorder Receptors, Metabotropic Glutamate Synaptosomal-Associated Protein 25
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A multi-task convolutional deep neural network for variant calling in single molecule sequencing.

Nature communications Mar 1, 2019
The accurate identification of DNA sequence variants is an important, but challenging task in genomics. It is particularly difficult for single molecule sequencing, which has a per-nucleotide error rate of ~5-15%. Meeting this demand, we developed Cl...
Computational Biology Sequence Analysis, DNA DNA Mutational Analysis Base Sequence Genome, Human Genome-Wide Association Study Genotyping Techniques Genomics Humans INDEL Mutation Polymorphism, Single Nucleotide Neural Networks, Computer Nanopores Genotype Software
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