AIMC Topic: Genetic Predisposition to Disease
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Non-coding genetic elements of lung cancer identified using whole genome sequencing in 13,722 Chinese.
Nature communications
Aug 9, 2025
A substantial portion of lung cancer-associated genetic elements in East Asian populations remains unidentified, underscoring the need for large-scale genome-wide studies, particularly on non-coding regulation. We conducted a whole genome sequencing ...
Machine learning in Alzheimer's disease genetics.
Nature communications
Jul 22, 2025
Traditional statistical approaches have advanced our understanding of the genetics of complex diseases, yet are limited to linear additive models. Here we applied machine learning (ML) to genome-wide data from 41,686 individuals in the largest Europe...
Machine learning using genotype and gene-expression data identifies alterations of genes involved in infection susceptibility, antigen presentation and cytokine signalling as key contributors to JIA risk prediction.
RMD open
Jul 9, 2025
BACKGROUND: Previous genome-wide association studies (GWAS) have identified numerous genetic loci associated with juvenile idiopathic arthritis (JIA). However, the functional impact of these variants-particularly on tissue-specific gene expression-an...
Identification of key genes as diagnostic biomarkers for IBD using bioinformatics and machine learning.
Journal of translational medicine
Jul 3, 2025
BACKGROUND: The pathogenesis of inflammatory bowel disease (IBD) involves complex molecular mechanisms, and achieving clinical remission remains challenging. This study aims to identify IBD-potential biomarkers, analyze their correlation with immune ...
Mitochondrial haplogroup A2 is associated with increased COVID-19 mortality in an admixed Brazilian population.
Scientific reports
Jul 1, 2025
Mitochondria play a crucial role in cellular respiration and immune responses. Mitochondrial DNA (mtDNA) haplogroups and variants have been associated with various diseases, including COVID-19. This study analyzed complete mtDNA sequences from 467 Br...
Exploration of shared pathogenic factors and causative genes in early-stage endometrial cancer and osteoarthritis.
Scientific reports
Jul 1, 2025
Osteoarthritis (OA) has been implicated in the development and progression of early-stage endometrial cancer (EC), suggesting shared pathogenic factors between the two diseases. This study aimed to investigate the causal relationship between OA and E...
Case-control study combined with machine learning techniques to identify key genetic variations in GSK3B that affect susceptibility to diabetic kidney diseases.
BMC endocrine disorders
Jun 5, 2025
The role of genetic susceptibility in early warning and precise treatment of diabetic kidney disease (DKD) requires further investigation. A case-control study was conducted to evaluate the predictive effect of GSK3B genetic polymorphisms on the susc...
Screening of glioma susceptibility SNPs and construction of risk models based on machine learning algorithms.
BMC neurology
Jun 5, 2025
BACKGROUND: Glioma is a common primary malignant brain tumor. This study aimed to develop a predictive model for glioma risk by these screened key SNPs in the Chinese Han population.
Epistasis regulates genetic control of cardiac hypertrophy.
Nature cardiovascular research
Jun 5, 2025
Although genetic variant effects often interact nonadditively, strategies to uncover epistasis remain in their infancy. Here we develop low-signal signed iterative random forests to elucidate the complex genetic architecture of cardiac hypertrophy, u...
Humans
Phenotype
Female
Aged
Male
Middle Aged
Myocytes, Cardiac
Hypertrophy, Left Ventricular
Magnetic Resonance Imaging
Connectin
Epistasis, Genetic
Induced Pluripotent Stem Cells
Deep Learning
Receptor, IGF Type 1
Heart Failure
Genome-Wide Association Study
Ventricular Remodeling
Gene Regulatory Networks
Genetic Predisposition to Disease
Performance of deep-learning-based approaches to improve polygenic scores.
Nature communications
Jun 2, 2025
Polygenic scores, which estimate an individual's genetic propensity for a disease or trait, have the potential to become part of genomic healthcare. Neural-network based deep-learning has emerged as a method of intense interest to model complex, nonl...
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