AIMC Topic: Polymorphism, Single Nucleotide

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Evaluation of computational techniques for predicting non-synonymous single nucleotide variants pathogenicity.

Genomics May 26, 2018
The human genetic diseases associated with many factors, one of these factors is the non-synonymous Single Nucleotide Variants (nsSNVs) cause single amino acid change with another resulting in protein function change leading to disease. Many computat...
Machine Learning Software Genome-Wide Association Study Genetic Predisposition to Disease Polymorphism, Single Nucleotide Humans
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Brain-Wide Genome-Wide Association Study for Alzheimer's Disease via Joint Projection Learning and Sparse Regression Model.

IEEE transactions on bio-medical engineering Apr 9, 2018
Brain-wide and genome-wide association (BW-GWA) study is presented in this paper to identify the associations between the brain imaging phenotypes (i.e., regional volumetric measures) and the genetic variants [i.e., single nucleotide polymorphism (SN...
Humans Polymorphism, Single Nucleotide Computational Biology Magnetic Resonance Imaging Regression Analysis Alzheimer Disease Machine Learning Databases, Factual Brain Genome-Wide Association Study
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Transcriptomics and machine learning predict diagnosis and severity of growth hormone deficiency.

JCI insight Apr 5, 2018
BACKGROUND: The effect of gene expression data on diagnosis remains limited. Here, we show how diagnosis and classification of growth hormone deficiency (GHD) can be achieved from a single blood sample using a combination of transcriptomics and rando...
Child ROC Curve Gene Regulatory Networks Polymorphism, Single Nucleotide Predictive Value of Tests Adolescent Human Growth Hormone Growth Disorders Humans Child, Preschool Machine Learning Biomarkers Female Male Principal Component Analysis Severity of Illness Index Healthy Volunteers Gene Expression Profiling Datasets as Topic Transcriptome Case-Control Studies
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Artificial neural network model for predicting the bioavailability of tacrolimus in patients with renal transplantation.

PloS one Apr 5, 2018
The objective of the current study was to explore the role of ABCB1 and CYP3A5 genetic polymorphisms in predicting the bioavailability of tacrolimus and the risk for post-transplant diabetes. Artificial neural network (ANN) and logistic regression (L...
Male Middle Aged Adolescent Polymorphism, Single Nucleotide Genotype Humans Kidney Transplantation ATP Binding Cassette Transporter, Subfamily B Neural Networks, Computer Female Young Adult Computational Biology Adult Tacrolimus Biological Availability Cytochrome P-450 CYP3A
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Sequential regulatory activity prediction across chromosomes with convolutional neural networks.

Genome research Mar 27, 2018
Models for predicting phenotypic outcomes from genotypes have important applications to understanding genomic function and improving human health. Here, we develop a machine-learning system to predict cell-type-specific epigenetic and transcriptional...
Neural Networks, Computer Machine Learning Animals Gene Expression Profiling Genomics Humans Gene Expression Regulation Promoter Regions, Genetic Chromosomes Regulatory Sequences, Nucleic Acid Polymorphism, Single Nucleotide Computational Biology Epigenomics Models, Genetic
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Generalising better: Applying deep learning to integrate deleteriousness prediction scores for whole-exome SNV studies.

PloS one Mar 14, 2018
Many automatic classifiers were introduced to aid inference of phenotypical effects of uncategorised nsSNVs (nonsynonymous Single Nucleotide Variations) in theoretical and medical applications. Lately, several meta-estimators have been proposed that ...
Machine Learning Internet Polymorphism, Single Nucleotide Exome Models, Genetic Sequence Analysis, DNA
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GWAS-based machine learning approach to predict duloxetine response in major depressive disorder.

Journal of psychiatric research Feb 2, 2018
Major depressive disorder (MDD) is one of the most prevalent psychiatric disorders and is commonly treated with antidepressant drugs. However, large variability is observed in terms of response to antidepressants. Machine learning (ML) models may be ...
Outcome Assessment, Health Care Duloxetine Hydrochloride Serotonin and Noradrenaline Reuptake Inhibitors Humans Female Prognosis Adult Sensitivity and Specificity Male Middle Aged Depressive Disorder, Major Genome-Wide Association Study Polymorphism, Single Nucleotide Support Vector Machine
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Interaction of Vitamin E Intake and Pro12Ala Polymorphism of PPARG with Adiponectin Levels.

Journal of nutrigenetics and nutrigenomics Feb 2, 2018
BACKGROUND/AIM: One of the beneficial effects associated with vitamin E intake is the enhancement of peroxisome proliferator-activated receptor gamma (PPARĪ³) activity and the consequent upregulation of adiponectin expression. The aim of this study wa...
Cross-Sectional Studies Polymorphism, Single Nucleotide Male Genotype Humans Middle Aged Nutrigenomics Adiponectin Female Adolescent PPAR gamma Amino Acid Substitution Young Adult Vitamin E Adult
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Machine Learning on a Genome-wide Association Study to Predict Late Genitourinary Toxicity After Prostate Radiation Therapy.

International journal of radiation oncology, biology, physics Jan 31, 2018
PURPOSE: Late genitourinary (GU) toxicity after radiation therapy limits the quality of life of prostate cancer survivors; however, efforts to explain GU toxicity using patient and dose information have remained unsuccessful. We identified patients w...
Polymorphism, Single Nucleotide Regression Analysis Predictive Value of Tests Area Under Curve Prostatic Neoplasms Androgen Antagonists Confidence Intervals Genotyping Techniques Brachytherapy Urination Reproducibility of Results Symptom Assessment Male Urogenital System Quality of Life Nocturia Genome-Wide Association Study Urination Disorders Risk Humans Lower Urinary Tract Symptoms Machine Learning Urinary Retention
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Prediction of opioid dose in cancer pain patients using genetic profiling: not yet an option with support vector machine learning.

BMC research notes Jan 27, 2018
OBJECTIVE: Use of opioids for pain management has increased over the past decade; however, inadequate analgesic response is common. Genetic variability may be related to opioid efficacy, but due to the many possible combinations and variables, statis...
Catechol O-Methyltransferase Female Receptors, Opioid, delta Aged Morphine Male Polymorphism, Single Nucleotide Gene Frequency Middle Aged Humans Genotype Cancer Pain Support Vector Machine Receptors, Opioid, mu Dose-Response Relationship, Drug Analgesics, Opioid
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