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Genetic Predisposition to Disease

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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...

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...

Regression convolutional neural network models implicate peripheral immune regulatory variants in the predisposition to Alzheimer's disease.

PLoS computational biology
Alzheimer's disease (AD) involves aggregation of amyloid β and tau, neuron loss, cognitive decline, and neuroinflammatory responses. Both resident microglia and peripheral immune cells have been associated with the immune component of AD. However, th...

Explore key genes of Crohn's disease based on glycerophospholipid metabolism: A comprehensive analysis Utilizing Mendelian Randomization, Multi-Omics integration, Machine Learning, and SHAP methodology.

International immunopharmacology
BACKGROUND AND AIMS: Crohn's disease (CD) is a chronic, complex inflammatory condition with increasing incidence and prevalence worldwide. However, the causes of CD remain incompletely understood. We identified CD-related metabolites, inflammatory fa...

Family history of cancer and lung cancer: Utility of big data and artificial intelligence for exploring the role of genetic risk.

Lung cancer (Amsterdam, Netherlands)
OBJECTIVES: Lung Cancer (LC) is a multifactorial disease for which the role of genetic susceptibility has become increasingly relevant. Our aim was to use artificial intelligence (AI) to analyze differences between patients with LC based on family hi...

SR-TWAS: leveraging multiple reference panels to improve transcriptome-wide association study power by ensemble machine learning.

Nature communications
Multiple reference panels of a given tissue or multiple tissues often exist, and multiple regression methods could be used for training gene expression imputation models for transcriptome-wide association studies (TWAS). To leverage expression imputa...

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...

LKLPDA: A Low-Rank Fast Kernel Learning Approach for Predicting piRNA-Disease Associations.

IEEE/ACM transactions on computational biology and bioinformatics
Piwi-interacting RNAs (piRNAs) are increasingly recognized as potential biomarkers for various diseases. Investig-ating the complex relationship between piRNAs and diseases through computational methods can reduce the costs and risks associated with ...

KGRACDA: A Model Based on Knowledge Graph from Recursion and Attention Aggregation for CircRNA-Disease Association Prediction.

IEEE/ACM transactions on computational biology and bioinformatics
CircRNA is closely related to human disease, so it is important to predict circRNA-disease association (CDA). However, the traditional biological detection methods have high difficulty and low accuracy, and computational methods represented by deep l...

Predicting miRNA-Disease Associations Based on Spectral Graph Transformer With Dynamic Attention and Regularization.

IEEE journal of biomedical and health informatics
Extensive research indicates that microRNAs (miRNAs) play a crucial role in the analysis of complex human diseases. Recently, numerous methods utilizing graph neural networks have been developed to investigate the complex relationships between miRNAs...