AIMC Topic: Genetic Predisposition to Disease

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Screening of key biomarkers of tendinopathy based on bioinformatics and machine learning algorithms.

PloS one
Tendinopathy is a complex multifaceted tendinopathy often associated with overuse and with its high prevalence resulting in significant health care costs. At present, the pathogenesis and effective treatment of tendinopathy are still not sufficiently...

Disease variant prediction with deep generative models of evolutionary data.

Nature
Quantifying the pathogenicity of protein variants in human disease-related genes would have a marked effect on clinical decisions, yet the overwhelming majority (over 98%) of these variants still have unknown consequences. In principle, computational...

Association of TLR 9 gene polymorphisms with remission in patients with rheumatoid arthritis receiving TNF-α inhibitors and development of machine learning models.

Scientific reports
Toll-like receptor (TLR)-4 and TLR9 are known to play important roles in the immune system, and several studies have shown their association with the development of rheumatoid arthritis (RA) and regulation of tumor necrosis factor alpha (TNF-α). Howe...

MISSIM: An Incremental Learning-Based Model With Applications to the Prediction of miRNA-Disease Association.

IEEE/ACM transactions on computational biology and bioinformatics
In the past few years, the prediction models have shown remarkable performance in most biological correlation prediction tasks. These tasks traditionally use a fixed dataset, and the model, once trained, is deployed as is. These models often encounte...

iLncRNAdis-FB: Identify lncRNA-Disease Associations by Fusing Biological Feature Blocks Through Deep Neural Network.

IEEE/ACM transactions on computational biology and bioinformatics
Identification of lncRNA-disease associations is not only important for exploring the disease mechanism, but will also facilitate the molecular targeting drug discovery. Fusing multiple biological information is able to generate a more comprehensive ...

Translating polygenic risk scores for clinical use by estimating the confidence bounds of risk prediction.

Nature communications
A promise of genomics in precision medicine is to provide individualized genetic risk predictions. Polygenic risk scores (PRS), computed by aggregating effects from many genomic variants, have been developed as a useful tool in complex disease resear...

Uncovering cancer vulnerabilities by machine learning prediction of synthetic lethality.

Molecular cancer
BACKGROUND: Synthetic lethality describes a genetic interaction between two perturbations, leading to cell death, whereas neither event alone has a significant effect on cell viability. This concept can be exploited to specifically target tumor cells...

Interleukin-37 gene polymorphism and susceptibility to pulmonary tuberculosis among Iraqi patients.

The Indian journal of tuberculosis
BACKGROUND: Control of tuberculosis (TB) depends on a balance between host's immune factors and bacterial evasion strategies. Interleukin-37 (IL-37) is among the immunomodulatory factors that have been proposed to influence susceptibility to tubercul...

Deep learning prediction of attention-deficit hyperactivity disorder in African Americans by copy number variation.

Experimental biology and medicine (Maywood, N.J.)
Current understanding of the underlying molecular network and mechanism for attention-deficit hyperactivity disorder (ADHD) is lacking and incomplete. Previous studies suggest that genomic structural variations play an important role in the pathogene...

An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism.

Scientific reports
Venous thromboembolism is the third common cardiovascular disease and is composed of two entities, deep vein thrombosis (DVT) and its potential fatal form, pulmonary embolism (PE). While PE is observed in ~ 40% of patients with documented DVT, there ...