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Genetic Predisposition to Disease

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Interpretation of SNP combination effects on schizophrenia etiology based on stepwise deep learning with multi-precision data.

Briefings in functional genomics
Schizophrenia genome-wide association studies (GWAS) have reported many genomic risk loci, but it is unclear how they affect schizophrenia susceptibility through interactions of multiple SNPs. We propose a stepwise deep learning technique with multi-...

Innovative approaches to atrial fibrillation prediction: should polygenic scores and machine learning be implemented in clinical practice?

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
Atrial fibrillation (AF) prediction and screening are of important clinical interest because of the potential to prevent serious adverse events. Devices capable of detecting short episodes of arrhythmia are now widely available. Although it has recen...

Heterogeneous biomedical entity representation learning for gene-disease association prediction.

Briefings in bioinformatics
Understanding the genetic basis of disease is a fundamental aspect of medical research, as genes are the classic units of heredity and play a crucial role in biological function. Identifying associations between genes and diseases is critical for dia...

Discovering predisposing genes for hereditary breast cancer using deep learning.

Briefings in bioinformatics
Breast cancer (BC) is the most common malignancy affecting Western women today. It is estimated that as many as 10% of BC cases can be attributed to germline variants. However, the genetic basis of the majority of familial BC cases has yet to be iden...

SPIN: sex-specific and pathway-based interpretable neural network for sexual dimorphism analysis.

Briefings in bioinformatics
Sexual dimorphism in prevalence, severity and genetic susceptibility exists for most common diseases. However, most genetic and clinical outcome studies are designed in sex-combined framework considering sex as a covariate. Few sex-specific studies h...

Six-gene prognostic signature for non-alcoholic fatty liver disease susceptibility using machine learning.

Medicine
BACKGROUND: nonalcoholic fatty liver disease (NAFLD) is a common liver disease affecting the global population and its impact on human health will continue to increase. Genetic susceptibility is an important factor influencing its onset and progressi...

DeLIVR: a deep learning approach to IV regression for testing nonlinear causal effects in transcriptome-wide association studies.

Biostatistics (Oxford, England)
Transcriptome-wide association studies (TWAS) have been increasingly applied to identify (putative) causal genes for complex traits and diseases. TWAS can be regarded as a two-sample two-stage least squares method for instrumental variable (IV) regre...

Epistatic Features and Machine Learning Improve Alzheimer's Disease Risk Prediction Over Polygenic Risk Scores.

Journal of Alzheimer's disease : JAD
BACKGROUND: Polygenic risk scores (PRS) are linear combinations of genetic markers weighted by effect size that are commonly used to predict disease risk. For complex heritable diseases such as late-onset Alzheimer's disease (LOAD), PRS models fail t...

Importance of GWAS Risk Loci and Clinical Data in Predicting Asthma Using Machine-learning Approaches.

Combinatorial chemistry & high throughput screening
INTRODUCTION: To understand the risk factors of asthma, we combined genome-wide association study (GWAS) risk loci and clinical data in predicting asthma using machine-learning approaches.

A comprehensive investigation of statistical and machine learning approaches for predicting complex human diseases on genomic variants.

Briefings in bioinformatics
Quantifying an individual's risk for common diseases is an important goal of precision health. The polygenic risk score (PRS), which aggregates multiple risk alleles of candidate diseases, has emerged as a standard approach for identifying high-risk ...