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Genetic Predisposition to Disease

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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 ...

ILDMSF: Inferring Associations Between Long Non-Coding RNA and Disease Based on Multi-Similarity Fusion.

IEEE/ACM transactions on computational biology and bioinformatics
The dysregulation and mutation of long non-coding RNAs (lncRNAs) have been proved to result in a variety of human diseases. Identifying potential disease-related lncRNAs may benefit disease diagnosis, treatment and prognosis. A number of methods have...

Data-driven approaches to advance research and clinical care for pediatric cancer.

Biochimica et biophysica acta. Reviews on cancer
Pediatric cancer is a rare disease with a distinct etiology and mutational landscape compared with adult cancer. Multi-omics profiling of retrospective and prospective cohorts coupled with innovative computational analysis have been instrumental in u...

Deep learning predicts gene expression as an intermediate data modality to identify susceptibility patterns in Mycobacterium tuberculosis infected Diversity Outbred mice.

EBioMedicine
BACKGROUND: Machine learning sustains successful application to many diagnostic and prognostic problems in computational histopathology. Yet, few efforts have been made to model gene expression from histopathology. This study proposes a methodology w...

Kernel machine SNP set analysis finds the association of BUD13, ZPR1, and APOA5 variants with metabolic syndrome in Tehran Cardio-metabolic Genetics Study.

Scientific reports
Metabolic syndrome (MetS) is one of the most important risk factors for cardiovascular disease. The 11p23.3 chromosomal region plays a potential role in the pathogenesis of MetS. The present study aimed to assess the association between 18 single nuc...