AIMC Topic: Genetic Predisposition to Disease

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Leveraging Human Genetics to Guide Cancer Drug Development.

JCO clinical cancer informatics
PURPOSE: The high attrition rate of cancer drug development programs is a barrier to realizing the promise of precision oncology. We have examined whether the genetic insights from genome-wide association studies of cancer can guide drug development ...

Support vector machine-based assessment of the T-wave morphology improves long QT syndrome diagnosis.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
AIMS: Diagnosing long QT syndrome (LQTS) is challenging due to a considerable overlap of the QTc-interval between LQTS patients and healthy controls. The aim of this study was to investigate the added value of T-wave morphology markers obtained from ...

Gene multifunctionality scoring using gene ontology.

Journal of bioinformatics and computational biology
Multifunctional genes are important genes because of their essential roles in human cells. Studying and analyzing multifunctional genes can help understand disease mechanisms and drug discovery. We propose a computational method for scoring gene mult...

Identifying patients with familial hypercholesterolemia using data mining methods in the Northern Great Plain region of Hungary.

Atherosclerosis
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is one of the most frequent diseases with monogenic inheritance. Previous data indicated that the heterozygous form occurred in 1:250 people. Based on these reports, around 36,000-40,000 people ...

Gene prioritization using Bayesian matrix factorization with genomic and phenotypic side information.

Bioinformatics (Oxford, England)
MOTIVATION: Most gene prioritization methods model each disease or phenotype individually, but this fails to capture patterns common to several diseases or phenotypes. To overcome this limitation, we formulate the gene prioritization task as the fact...

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 ...

The Association Between Bisphenol A and Polycystic Ovarian Syndrome: A Case-Control Study.

Acta medica Iranica
Polycystic ovarian syndrome (PCOS) is an endocrine metabolic disorder with unclear etiopathogenesis among reproductive age women. Evidences show genetic susceptibility and environmental factors were associated with PCOS. The aim of this study was to ...

Machine Learning-Based Gene Prioritization Identifies Novel Candidate Risk Genes for Inflammatory Bowel Disease.

Inflammatory bowel diseases
BACKGROUND: The inflammatory bowel diseases (IBDs) are chronic inflammatory disorders, associated with genetic, immunologic, and environmental factors. Although hundreds of genes are implicated in IBD etiology, it is likely that additional genes play...