AIMC Topic: Polymorphism, Single Nucleotide
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Fuzzy Logic as a Strategy for Combining Marker Statistics to Optimize Preselection of High-Density and Sequence Genotype Data.
Genes
Nov 11, 2022
The high dimensionality of genotype data available for genomic evaluations has presented a motivation for developing strategies to identify subsets of markers capable of increasing the accuracy of predictions compared to the current commercial single...
Deep learning predicts DNA methylation regulatory variants in the human brain and elucidates the genetics of psychiatric disorders.
Proceedings of the National Academy of Sciences of the United States of America
Aug 15, 2022
There is growing evidence for the role of DNA methylation (DNAm) quantitative trait loci (mQTLs) in the genetics of complex traits, including psychiatric disorders. However, due to extensive linkage disequilibrium (LD) of the genome, it is challengin...
Genetic Analysis of Coronary Artery Disease Using Tree-Based Automated Machine Learning Informed By Biology-Based Feature Selection.
IEEE/ACM transactions on computational biology and bioinformatics
Jun 3, 2022
Machine Learning (ML) approaches are increasingly being used in biomedical applications. Important challenges of ML include choosing the right algorithm and tuning the parameters for optimal performance. Automated ML (AutoML) methods, such as Tree-ba...
Predictive classification of Alzheimer's disease using brain imaging and genetic data.
Scientific reports
Feb 14, 2022
For now, Alzheimer's disease (AD) is incurable. But if it can be diagnosed early, the correct treatment can be used to delay the disease. Most of the existing research methods use single or multi-modal imaging features for prediction, relatively few ...
Marker effects and heritability estimates using additive-dominance genomic architectures via artificial neural networks in Coffea canephora.
PloS one
Jan 26, 2022
Many methodologies are used to predict the genetic merit in animals and plants, but some of them require priori assumptions that may increase the complexity of the model. Artificial neural network (ANN) has advantage to not require priori assumptions...
Genetic prediction of ICU hospitalization and mortality in COVID-19 patients using artificial neural networks.
Journal of cellular and molecular medicine
Jan 22, 2022
There is an unmet need of models for early prediction of morbidity and mortality of Coronavirus disease-19 (COVID-19). We aimed to a) identify complement-related genetic variants associated with the clinical outcomes of ICU hospitalization and death,...
RegVar: Tissue-specific Prioritization of Non-coding Regulatory Variants.
Genomics, proteomics & bioinformatics
Dec 29, 2021
Non-coding genomic variants constitute the majority of trait-associated genome variations; however, the identification of functional non-coding variants is still a challenge in human genetics, and a method for systematically assessing the impact of r...
The mining and construction of a knowledge base for gene-disease association in mitochondrial diseases.
Scientific reports
Dec 13, 2021
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...
Machine learning random forest for predicting oncosomatic variant NGS analysis.
Scientific reports
Nov 8, 2021
Since 2017, we have used IonTorrent NGS platform in our hospital to diagnose and treat cancer. Analyzing variants at each run requires considerable time, and we are still struggling with some variants that appear correct on the metrics at first, but ...
Association of TLR 9 gene polymorphisms with remission in patients with rheumatoid arthritis receiving TNF-α inhibitors and development of machine learning models.
Scientific reports
Oct 11, 2021
Toll-like receptor (TLR)-4 and TLR9 are known to play important roles in the immune system, and several studies have shown their association with the development of rheumatoid arthritis (RA) and regulation of tumor necrosis factor alpha (TNF-α). Howe...
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