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Genome-Wide Association Study

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PLANET-SNP pipeline: PLants based ANnotation and Establishment of True SNP pipeline.

Genomics
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.)
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
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
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
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
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
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 ...

Revealing Alzheimer's disease genes spectrum in the whole-genome by machine learning.

BMC neurology
BACKGROUND: Alzheimer's disease (AD) is an important, progressive neurodegenerative disease, with a complex genetic architecture. A key goal of biomedical research is to seek out disease risk genes, and to elucidate the function of these risk genes i...

Stable solution to l -based robust inductive matrix completion and its application in linking long noncoding RNAs to human diseases.

BMC medical genomics
BACKGROUNDS: A large number of long intergenic non-coding RNAs (lincRNAs) are linked to a broad spectrum of human diseases. The disease association with many other lincRNAs still remain as puzzle. Validation of such links between the two entities thr...