AIMC Topic: Genome-Wide Association Study
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An unsupervised machine learning method for discovering patient clusters based on genetic signatures.
Journal of biomedical informatics
Jul 29, 2018
INTRODUCTION: Many chronic disorders have genomic etiology, disease progression, clinical presentation, and response to treatment that vary on a patient-to-patient basis. Such variability creates a need to identify characteristics within patient popu...
Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk.
Nature genetics
Jul 16, 2018
Key challenges for human genetics, precision medicine and evolutionary biology include deciphering the regulatory code of gene expression and understanding the transcriptional effects of genome variation. However, this is extremely difficult because ...
PLANET-SNP pipeline: PLants based ANnotation and Establishment of True SNP pipeline.
Genomics
Jul 3, 2018
Acute prediction of SNPs (Single Nucleotide Polymorphisms) from high throughput sequencing data is a challenging problem, having potential to explore possible variation within plants species. For the extraction of profitable information from bulk of ...
Leveraging multiple gene networks to prioritize GWAS candidate genes via network representation learning.
Methods (San Diego, Calif.)
Jun 3, 2018
Genome-wide association studies (GWAS) have successfully discovered a number of disease-associated genetic variants in the past decade, providing an unprecedented opportunity for deciphering genetic basis of human inherited diseases. However, it is s...
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...
A hierarchical clustering method for dimension reduction in joint analysis of multiple phenotypes.
Genetic epidemiology
Apr 22, 2018
Genome-wide association studies (GWAS) have become a very effective research tool to identify genetic variants of underlying various complex diseases. In spite of the success of GWAS in identifying thousands of reproducible associations between genet...
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...
Informatics and machine learning to define the phenotype.
Expert review of molecular diagnostics
Feb 16, 2018
For the past decade, the focus of complex disease research has been the genotype. From technological advancements to the development of analysis methods, great progress has been made. However, advances in our definition of the phenotype have remained...
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 ...
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...
Nocturia
Area Under Curve
Prostatic Neoplasms
Urination
Androgen Antagonists
Symptom Assessment
Humans
Polymorphism, Single Nucleotide
Urogenital System
Male
Machine Learning
Regression Analysis
Reproducibility of Results
Predictive Value of Tests
Quality of Life
Urination Disorders
Confidence Intervals
Lower Urinary Tract Symptoms
Genome-Wide Association Study
Risk
Genotyping Techniques
Urinary Retention
Brachytherapy
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