AIMC Topic: Genetic Predisposition to Disease

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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 ...

PRECOGx: exploring GPCR signaling mechanisms with deep protein representations.

Nucleic acids research
In this study we show that protein language models can encode structural and functional information of GPCR sequences that can be used to predict their signaling and functional repertoire. We used the ESM1b protein embeddings as features and the bind...

Predicting miRNA-disease associations using an ensemble learning framework with resampling method.

Briefings in bioinformatics
MOTIVATION: Accumulating evidences have indicated that microRNA (miRNA) plays a crucial role in the pathogenesis and progression of various complex diseases. Inferring disease-associated miRNAs is significant to explore the etiology, diagnosis and tr...

Genome-wide association study-based prediction of atrial fibrillation using artificial intelligence.

Open heart
OBJECTIVE: We previously reported early-onset atrial fibrillation (AF) associated genetic loci among a Korean population. We explored whether the AF-associated single-nucleotide polymorphisms (SNPs) selected from the Genome-Wide Association Study (GW...

Deep learning model reveals potential risk genes for ADHD, especially Ephrin receptor gene EPHA5.

Briefings in bioinformatics
Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder. Although genome-wide association studies (GWAS) identify the risk ADHD-associated variants and genes with significant P-values, they may neglect the combined eff...

NMCMDA: neural multicategory MiRNA-disease association prediction.

Briefings in bioinformatics
MOTIVATION: There is growing evidence showing that the dysregulations of miRNAs cause diseases through various kinds of the underlying mechanism. Thus, predicting the multiple-category associations between microRNAs (miRNAs) and diseases plays an imp...

Discriminating Heterogeneous Trajectories of Resilience and Depression After Major Life Stressors Using Polygenic Scores.

JAMA psychiatry
IMPORTANCE: Major life stressors, such as loss and trauma, increase the risk of depression. It is known that individuals show heterogeneous trajectories of depressive symptoms following major life stressors, including chronic depression, recovery, an...