AIMC Topic: Genetic Association Studies

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Multi-label Deep Learning for Gene Function Annotation in Cancer Pathways.

Scientific reports
The war on cancer is progressing globally but slowly as researchers around the world continue to seek and discover more innovative and effective ways of curing this catastrophic disease. Organizing biological information, representing it, and making ...

Comparative analysis of weighted gene co-expression networks in human and mouse.

PloS one
The application of complex network modeling to analyze large co-expression data sets has gained traction during the last decade. In particular, the use of the weighted gene co-expression network analysis framework has allowed an unbiased and systems-...

PSCA rs1045531 Polymorphism and the Risk of Prostate Cancer in a Chinese Population Undergoing Prostate Biopsy.

Technology in cancer research & treatment
BACKGROUND AND PURPOSE: This study explored the association between a single-nucleotide polymorphism of prostate stem cell antigen and prostate cancer in Chinese patients undergoing prostate biopsy.

Interactive phenotyping of large-scale histology imaging data with HistomicsML.

Scientific reports
Whole-slide imaging of histologic sections captures tissue microenvironments and cytologic details in expansive high-resolution images. These images can be mined to extract quantitative features that describe tissues, yielding measurements for hundre...

Predicting pathogenic genes for primary myelofibrosis based on a system‑network approach.

Molecular medicine reports
The aim of the present study was to predict pathogenic genes for primary myelofibrosis (PMF) using a system‑network approach by combining protein‑protein interaction (PPI) network and gene expression data with known pathogenic genes. PMF gene express...

Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods.

BMC bioinformatics
BACKGROUND: The prediction of human gene-abnormal phenotype associations is a fundamental step toward the discovery of novel genes associated with human disorders, especially when no genes are known to be associated with a specific disease. In this c...

DRMDA: deep representations-based miRNA-disease association prediction.

Journal of cellular and molecular medicine
Recently, microRNAs (miRNAs) are confirmed to be important molecules within many crucial biological processes and therefore related to various complex human diseases. However, previous methods of predicting miRNA-disease associations have their own d...

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...