AIMC Topic: Genetic Association Studies

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Interaction between SELP genetic polymorphisms with inflammatory cytokine interleukin-6 (IL-6) gene variants on cardiovascular disease in Chinese Han population.

Mammalian genome : official journal of the International Mammalian Genome Society
The aim of the study is to investigate the impact of SELP and IL-6 genetic single-nucleotide polymorphisms (SNPs) and its gene-gene interaction on cardiovascular disease (CVD) risk based on Chinese population. A total of 1082 subjects (519 males, 563...

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism.

Genetics in medicine : official journal of the American College of Medical Genetics
PurposeRecognizing individuals with inherited diseases can be difficult because signs and symptoms often overlap those of common medical conditions. Focusing on inborn errors of metabolism (IEMs), we present a method that brings the knowledge of high...

DES-TOMATO: A Knowledge Exploration System Focused On Tomato Species.

Scientific reports
Tomato is the most economically important horticultural crop used as a model to study plant biology and particularly fruit development. Knowledge obtained from tomato research initiated improvements in tomato and, being transferrable to other such ec...

Genetic Variation in CD36 Is Associated with Decreased Fat and Sugar Intake in Obese Children and Adolescents.

Journal of nutrigenetics and nutrigenomics
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 ...

Who's Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy.

American journal of human genetics
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...

The Human Phenotype Ontology in 2017.

Nucleic acids research
Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.hum...

Integrating network, sequence and functional features using machine learning approaches towards identification of novel Alzheimer genes.

BMC genomics
BACKGROUND: Alzheimer's disease (AD) is a complex progressive neurodegenerative disorder commonly characterized by short term memory loss. Presently no effective therapeutic treatments exist that can completely cure this disease. The cause of Alzheim...

Using the Generalized Index of Dissimilarity to Detect Gene-Gene Interactions in Multi-Class Phenotypes.

PloS one
To find genetic association between complex diseases and phenotypic traits, one important procedure is conducting a joint analysis. Multifactor dimensionality reduction (MDR) is an efficient method of examining the interactions between genes in genet...

Influence of vascular endothelial growth factor and alpha-fetoprotein on hepatocellular carcinoma.

Genetics and molecular research : GMR
We evaluated the influence of the vascular endothelial growth factor (VEGF) -C936T polymorphism on prognosis of hepatocellular carcinoma (HCC), cirrhosis, and hepatitis C virus (HCV) infection. Serum VEGF and alpha-fetoprotein (AFP) levels were deter...