AIMC Topic: Polymorphism, Single Nucleotide

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SNPPhenA: a corpus for extracting ranked associations of single-nucleotide polymorphisms and phenotypes from literature.

Journal of biomedical semantics Apr 7, 2017
BACKGROUND: Single Nucleotide Polymorphisms (SNPs) are among the most important types of genetic variations influencing common diseases and phenotypes. Recently, some corpora and methods have been developed with the purpose of extracting mutations an...
Mutation Information Storage and Retrieval Semantics Gene Ontology Phenotype Polymorphism, Single Nucleotide
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An empirical fuzzy multifactor dimensionality reduction method for detecting gene-gene interactions.

BMC genomics Mar 14, 2017
BACKGROUND: Detection of gene-gene interaction (GGI) is a key challenge towards solving the problem of missing heritability in genetics. The multifactor dimensionality reduction (MDR) method has been widely studied for detecting GGIs. MDR reduces the...
Fuzzy Logic Internet Crohn Disease Datasets as Topic Polymorphism, Single Nucleotide Genotype Models, Genetic Epistasis, Genetic Multifactor Dimensionality Reduction Humans Software Bipolar Disorder
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Genetic Variation in CD36 Is Associated with Decreased Fat and Sugar Intake in Obese Children and Adolescents.

Journal of nutrigenetics and nutrigenomics Feb 25, 2017
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 ...
Taste Perception Dietary Fats Dietary Sugars Child Food Preferences Feeding Behavior CD36 Antigens Cross-Sectional Studies Male Brazil Genotype Genetic Predisposition to Disease Adolescent Humans Genetic Association Studies Polymorphism, Single Nucleotide Female Pediatric Obesity Risk Factors Eating
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Computational methods using genome-wide association studies to predict radiotherapy complications and to identify correlative molecular processes.

Scientific reports Feb 24, 2017
The biological cause of clinically observed variability of normal tissue damage following radiotherapy is poorly understood. We hypothesized that machine/statistical learning methods using single nucleotide polymorphism (SNP)-based genome-wide associ...
Neoplasm Proteins Prostatic Neoplasms Prostate Rectum Polymorphism, Single Nucleotide Gene Expression Regulation, Neoplastic Signal Transduction Gamma Rays Hemorrhage Erectile Dysfunction Radiation Tolerance Prognosis Aged Biomarkers, Tumor Male Middle Aged Genome-Wide Association Study Cohort Studies Humans Machine Learning
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Who's Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy.

American journal of human genetics Feb 9, 2017
The potential for genetic discovery in human DNA sequencing studies is greatly diminished if DNA samples from a cohort are mislabeled, swapped, or contaminated or if they include unintended individuals. Unfortunately, the potential for such errors is...
Humans Machine Learning Software Genome, Human Pedigree Female Genotype Male Exome Genetic Association Studies Polymorphism, Single Nucleotide Chromosomes, Human, X Sequence Analysis, DNA Genetic Loci
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CaspNeuroD: a knowledgebase of predicted caspase cleavage sites in human proteins related to neurodegenerative diseases.

Database : the journal of biological databases and curation Dec 26, 2016
BACKGROUND: A variety of neurodegenerative diseases (NDs) have been associated with deregulated caspase activation that leads to neuronal death. Caspases appear to be involved in the molecular pathology of NDs by directly cleaving important proteins....
Nerve Tissue Proteins Neurodegenerative Diseases Caspases Machine Learning Polymorphism, Single Nucleotide Databases, Protein Humans
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A Review on Methods for Detecting SNP Interactions in High-Dimensional Genomic Data.

IEEE/ACM transactions on computational biology and bioinformatics Dec 2, 2016
In this era of genome-wide association studies (GWAS), the quest for understanding the genetic architecture of complex diseases is rapidly increasing more than ever before. The development of high throughput genotyping and next generation sequencing ...
Humans Polymorphism, Single Nucleotide Data Mining Epistasis, Genetic Machine Learning Genome-Wide Association Study Genomics
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SNooPer: a machine learning-based method for somatic variant identification from low-pass next-generation sequencing.

BMC genomics Nov 14, 2016
BACKGROUND: Next-generation sequencing (NGS) allows unbiased, in-depth interrogation of cancer genomes. Many somatic variant callers have been developed yet accurate ascertainment of somatic variants remains a considerable challenge as evidenced by t...
High-Throughput Nucleotide Sequencing Web Browser Mutation Workflow Genetic Variation Machine Learning Software Algorithms Reproducibility of Results Polymorphism, Single Nucleotide Computational Biology
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A comparative analysis of chaotic particle swarm optimizations for detecting single nucleotide polymorphism barcodes.

Artificial intelligence in medicine Sep 30, 2016
OBJECTIVE: Evolutionary algorithms could overcome the computational limitations for the statistical evaluation of large datasets for high-order single nucleotide polymorphism (SNP) barcodes. Previous studies have proposed several chaotic particle swa...
Neural Networks, Computer Algorithms Breast Neoplasms Polymorphism, Single Nucleotide Models, Genetic Chi-Square Distribution Pattern Recognition, Automated Humans
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Unsupervised detection of cancer driver mutations with parsimony-guided learning.

Nature genetics Sep 12, 2016
Methods are needed to reliably prioritize biologically active driver mutations over inactive passengers in high-throughput sequencing cancer data sets. We present ParsSNP, an unsupervised functional impact predictor that is guided by parsimony. ParsS...
Mutation Data Collection Stomach Neoplasms Neoplasms Humans Polymorphism, Single Nucleotide Machine Learning Models, Genetic Algorithms
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