AIMC Topic: Polymorphism, Single Nucleotide

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Modulation of aldosterone levels by aldosterone synthase promoter polymorphism and association with eGFR decline in patients with chronic kidney disease.

Discovery medicine
To determine whether -344T/C CYP11B2 promoter polymorphism affects serum aldosterone levels and whether this polymorphism is an indicator of eGFR decline in patients with chronic kidney disease. -344 C/T CYP11B2 gene polymorphism analysis was perform...

GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS.

Bioinformatics (Oxford, England)
SUMMARY: Exome sequencing approach is extensively used in research and diagnostic laboratories to discover pathological variants and study genetic architecture of human diseases. However, a significant proportion of identified genetic variants are ac...

Multivariate Pattern Analysis of Genotype-Phenotype Relationships in Schizophrenia.

Schizophrenia bulletin
Genetic risk variants for schizophrenia have been linked to many related clinical and biological phenotypes with the hopes of delineating how individual variation across thousands of variants corresponds to the clinical and etiologic heterogeneity wi...

Multiobjective multifactor dimensionality reduction to detect SNP-SNP interactions.

Bioinformatics (Oxford, England)
MOTIVATION: Single-nucleotide polymorphism (SNP)-SNP interactions (SSIs) are popular markers for understanding disease susceptibility. Multifactor dimensionality reduction (MDR) can successfully detect considerable SSIs. Currently, MDR-based methods ...

Partitioned learning of deep Boltzmann machines for SNP data.

Bioinformatics (Oxford, England)
MOTIVATION: Learning the joint distributions of measurements, and in particular identification of an appropriate low-dimensional manifold, has been found to be a powerful ingredient of deep leaning approaches. Yet, such approaches have hardly been ap...

CMDR based differential evolution identifies the epistatic interaction in genome-wide association studies.

Bioinformatics (Oxford, England)
MOTIVATION: Detecting epistatic interactions in genome-wide association studies (GWAS) is a computational challenge. Such huge numbers of single-nucleotide polymorphism (SNP) combinations limit the some of the powerful algorithms to be applied to det...

A unified model based multifactor dimensionality reduction framework for detecting gene-gene interactions.

Bioinformatics (Oxford, England)
MOTIVATION: Gene-gene interaction (GGI) is one of the most popular approaches for finding and explaining the missing heritability of common complex traits in genome-wide association studies. The multifactor dimensionality reduction (MDR) method has b...

Generalized Multifactor Dimensionality Reduction (GMDR) Analysis of Drug-Metabolizing Enzyme-Encoding Gene Polymorphisms may Predict Treatment Outcomes in Indian Breast Cancer Patients.

World journal of surgery
BACKGROUND: Prediction of response and toxicity of chemotherapy can help personalize the treatment and choose effective yet non-toxic treatment regimen for a breast cancer patient. Interplay of variations in various drug-metabolizing enzyme (DME)-enc...