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Genetic Predisposition to Disease

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An assessment of the value of deep neural networks in genetic risk prediction for surgically relevant outcomes.

PloS one
INTRODUCTION: Postoperative complications affect up to 15% of surgical patients constituting a major part of the overall disease burden in a modern healthcare system. While several surgical risk calculators have been developed, none have so far been ...

Machine learning models for predicting blood pressure phenotypes by combining multiple polygenic risk scores.

Scientific reports
We construct non-linear machine learning (ML) prediction models for systolic and diastolic blood pressure (SBP, DBP) using demographic and clinical variables and polygenic risk scores (PRSs). We developed a two-model ensemble, consisting of a baselin...

Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?

Journal of the American Heart Association
BACKGROUND: Familial hypercholesterolemia (FH), while highly prevalent, is a significantly underdiagnosed monogenic disorder. Improved detection could reduce the large number of cardiovascular events attributable to poor case finding. We aimed to ass...

A deep learning framework for predicting disease-gene associations with functional modules and graph augmentation.

BMC bioinformatics
BACKGROUND: The exploration of gene-disease associations is crucial for understanding the mechanisms underlying disease onset and progression, with significant implications for prevention and treatment strategies. Advances in high-throughput biotechn...

Discovering the gene-brain-behavior link in autism via generative machine learning.

Science advances
Autism is traditionally diagnosed behaviorally but has a strong genetic basis. A genetics-first approach could transform understanding and treatment of autism. However, isolating the gene-brain-behavior relationship from confounding sources of variab...

Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease.

Nature genetics
Coronary artery disease (CAD) exists on a spectrum of disease represented by a combination of risk factors and pathogenic processes. An in silico score for CAD built using machine learning and clinical data in electronic health records captures disea...

Unraveling the genetic and molecular landscape of sepsis and acute kidney injury: A comprehensive GWAS and machine learning approach.

International immunopharmacology
OBJECTIVES: This study aimed to explore the underlying mechanisms of sepsis and acute kidney injury (AKI), including sepsis-associated AKI (SA-AKI), a frequent complication in critically ill sepsis patients.

Prediction of adverse drug reactions due to genetic predisposition using deep neural networks.

Molecular informatics
Drug development is a long and costly process, often limited by the toxicity and adverse drug reactions (ADRs) caused by drug candidates. Even on the market, some drugs can cause strong ADRs that can vary depending on an individual polymorphism. The ...

A miRNA-disease association prediction model based on tree-path global feature extraction and fully connected artificial neural network with multi-head self-attention mechanism.

BMC cancer
BACKGROUND: MicroRNAs (miRNAs) emerge in various organisms, ranging from viruses to humans, and play crucial regulatory roles within cells, participating in a variety of biological processes. In numerous prediction methods for miRNA-disease associati...

Optimizing clinico-genomic disease prediction across ancestries: a machine learning strategy with Pareto improvement.

Genome medicine
BACKGROUND: Accurate prediction of an individual's predisposition to diseases is vital for preventive medicine and early intervention. Various statistical and machine learning models have been developed for disease prediction using clinico-genomic da...