AIMC Topic: Genetic Predisposition to Disease

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Artificial intelligence-based recognition for variant pathogenicity of BRCA1 using AlphaFold2-predicted structures.

Theranostics
With the surge of the high-throughput sequencing technologies, many genetic variants have been identified in the past decade. The vast majority of these variants are defined as variants of uncertain significance (VUS), as their significance to the fu...

Artificial Intelligence Based Study Association between p53 Gene Polymorphism and Endometriosis: A Systematic Review and Meta-analysis.

Computational intelligence and neuroscience
BACKGROUND: The P53 gene is critical to the onset and progression of cancers. Currently, relevant study findings indicate that the p53 gene may have a strong association with the risk of endometriosis, but these findings have not been united. To gath...

DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Genome medicine
BACKGROUND: Identifying breast cancer patients with DNA repair pathway-related germline pathogenic variants (GPVs) is important for effectively employing systemic treatment strategies and risk-reducing interventions. However, current criteria and ris...

A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization.

Scientific reports
Genomic variant interpretation is a critical step of the diagnostic procedure, often supported by the application of tools that may predict the damaging impact of each variant or provide a guidelines-based classification. We propose the application o...

Construction of genetic classification model for coronary atherosclerosis heart disease using three machine learning methods.

BMC cardiovascular disorders
BACKGROUND: Although the diagnostic method for coronary atherosclerosis heart disease (CAD) is constantly innovated, CAD in the early stage is still missed diagnosis for the absence of any symptoms. The gene expression levels varied during disease de...

The mining and construction of a knowledge base for gene-disease association in mitochondrial diseases.

Scientific reports
Mitochondrial diseases are a group of heterogeneous genetic metabolic diseases caused by mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) gene mutations. Mining the gene-disease association of mitochondrial diseases is helpful for understanding the pa...

GCAEMDA: Predicting miRNA-disease associations via graph convolutional autoencoder.

PLoS computational biology
microRNAs (miRNAs) are small non-coding RNAs related to a number of complicated biological processes. A growing body of studies have suggested that miRNAs are closely associated with many human diseases. It is meaningful to consider disease-related m...

DMFLDA: A Deep Learning Framework for Predicting lncRNA-Disease Associations.

IEEE/ACM transactions on computational biology and bioinformatics
A growing amount of evidence suggests that long non-coding RNAs (lncRNAs) play important roles in the regulation of biological processes in many human diseases. However, the number of experimentally verified lncRNA-disease associations is very limite...

Application of information theoretic feature selection and machine learning methods for the development of genetic risk prediction models.

Scientific reports
In view of the growth of clinical risk prediction models using genetic data, there is an increasing need for studies that use appropriate methods to select the optimum number of features from a large number of genetic variants with a high degree of r...

Combining genetic risk score with artificial neural network to predict the efficacy of folic acid therapy to hyperhomocysteinemia.

Scientific reports
Artificial neural network (ANN) is the main tool to dig data and was inspired by the human brain and nervous system. Several studies clarified its application in medicine. However, none has applied ANN to predict the efficacy of folic acid treatment ...