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Polymorphism, Single Nucleotide

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Association of and gene polymorphisms and ERAP2 protein with the susceptibility and severity of rheumatoid arthritis in the Ukrainian population.

Frontiers in immunology
INTRODUCTION: Rheumatoid arthritis (RA) is a long-term autoimmune disorder that primarily affects joints. Although RA is chiefly associated with HLA class II, nevertheless some HLA class I associations have also been observed. These molecules present...

Detection of pre-mRNA involved in abnormal splicing using Graph Neural Network and Nearest Correlation Method.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
BACKGROUND: DNA is the building block of genetic information, and is composed of alternating sequences of exons with genetic information and introns without no genetic information. DNA is damaged by normal metabolic activities and environmental facto...

Predicting Diabetic Retinopathy Using a Machine Learning Approach Informed by Whole-Exome Sequencing Studies.

Biomedical and environmental sciences : BES
OBJECTIVE: To establish and validate a novel diabetic retinopathy (DR) risk-prediction model using a whole-exome sequencing (WES)-based machine learning (ML) method.

Machine Learning Methods for Classifying Multiple Sclerosis and Alzheimer's Disease Using Genomic Data.

International journal of molecular sciences
Complex diseases pose challenges in prediction due to their multifactorial and polygenic nature. This study employed machine learning (ML) to analyze genomic data from the UK Biobank, aiming to predict the genomic predisposition to complex diseases l...

Genetic association studies using disease liabilities from deep neural networks.

American journal of human genetics
The case-control study is a widely used method for investigating the genetic underpinnings of binary traits. However, long-term, prospective cohort studies often grapple with absent or evolving health-related outcomes. Here, we propose two methods, l...

Genome data based deep learning identified new genes predicting pharmacological treatment response of attention deficit hyperactivity disorder.

Translational psychiatry
Although the efficacy of pharmacy in the treatment of attention deficit/hyperactivity disorder (ADHD) has been well established, the lack of predictors of treatment response poses great challenges for personalized treatment. The current study employe...

Improving genetic variant identification for quantitative traits using ensemble learning-based approaches.

BMC genomics
BACKGROUND: Genome-wide association studies (GWAS) are rapidly advancing due to the improved resolution and completeness provided by Telomere-to-Telomere (T2T) and pangenome assemblies. While recent advancements in GWAS methods have primarily focused...

Trans-ancestral rare variant association study with machine learning-based phenotyping for metabolic dysfunction-associated steatotic liver disease.

Genome biology
BACKGROUND: Genome-wide association studies (GWAS) have identified common variants associated with metabolic dysfunction-associated steatotic liver disease (MASLD). However, rare coding variant studies have been limited by phenotyping challenges and ...

Genomic selection in pig breeding: comparative analysis of machine learning algorithms.

Genetics, selection, evolution : GSE
BACKGROUND: The effectiveness of genomic prediction (GP) significantly influences breeding progress, and employing SNP markers to predict phenotypic values is a pivotal aspect of pig breeding. Machine learning (ML) methods are usually used to predict...

Exploring the application of deep learning methods for polygenic risk score estimation.

Biomedical physics & engineering express
. Polygenic risk scores (PRS) summarise genetic information into a single number with clinical and research uses. Deep learning (DL) has revolutionised multiple fields, however, the impact of DL on PRSs has been less significant. We explore how DL ca...