AIMC Topic: Genome-Wide Association Study

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Dissecting Shared Genetic Architecture of Thoracic Aortic Aneurysm and Aortic Related Traits and Identifying SplA/Ryanodine Receptor Domain and SOCS Box Containing 1 Involved in Smooth Muscle Phenotype Switching and Cell Senescence Through Alternative Splicing.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
Machine learning was employed to annotate images of the thoracic aorta, resulting in the identification of additional thoracic-related targets. However, genetic evaluation of the associations among thoracic aortic traits and their shared genes is lac...

Genetic Control of tRNA-Derived Fragments Contributes to Cancer Risk.

Cancer research
UNLABELLED: tRNA-derived fragments (tRF) are a class of small noncoding RNAs that have exhibited several functions in cancer. Recent studies have shown that mutations in tRNA genes can lead to global changes in tRF expression levels and may affect tR...

Genetic and molecular underpinnings of the link between rheumatoid arthritis and myasthenia gravis: Insights from GWAS and transcriptomic analyses.

Clinical rheumatology
BACKGROUND: Although studies have shown that patients with rheumatoid arthritis (RA) are at a higher risk of developing myasthenia gravis (MG), the causal relationship and shared genetic basis between these two diseases have not been fully investigat...

Machine learning-driven GWAS uncovers novel candidate genes for resistance to frosty pod rot and witches' broom disease in cacao.

The plant genome
Cacao (Theobroma cacao), the source of chocolate, is threatened by devastating diseases like frosty pod rot (FPR) and witches' broom disease (WBD), impacting global production and farmer livelihoods. Here, we employ a machine learning-driven genome-w...

The Role of HbA1c in Parkinson's Disease: An Integrative Analysis by Single-Cell, Bulk Transcriptome and Mendelian Randomization.

Molecular neurobiology
Decreased glucose tolerance is recognized as a factor associated with Parkinson's disease (PD) progression, yet the relationship between HbA1c and PD prognosis remains insufficiently explored. Using data from the Integrated Epidemiological Unit (IEU)...

Methodological opportunities in genomic data analysis to advance health equity.

Nature reviews. Genetics
The causes and consequences of inequities in genomic research and medicine are complex and widespread. However, it is widely acknowledged that underrepresentation of diverse populations in human genetics research risks exacerbating existing health di...

Integrative exome sequencing and machine learning identify MICB and interferon pathway genes as contributors to SSc risk.

Annals of the rheumatic diseases
OBJECTIVES: Systemic sclerosis (SSc) is a complex autoimmune disease with both known and unidentified genetic contributors. While genome-wide association studies (GWAS) have implicated multiple loci, many reside in noncoding regions. We aimed to iden...

Genetic Risk Scores in Stroke Research and Care.

Stroke
Stroke remains a leading cause of death and disability worldwide. While well-established risk factors play a major role, genetic predisposition is a crucial determinant of stroke susceptibility, with heritability estimates up to 39% for ischemic stro...

Genome-wide association study revealed candidate genes associated with egg-laying time traits in layer chicken.

Poultry science
In modern intensive caged laying hen production, variations in egg-laying time (ELT) among layers often increase the workload for egg collection, thereby raising the costs of labor or power and reducing overall efficiency. For management purpose, ear...

From classical approaches to artificial intelligence, old and new tools for PDAC risk stratification and prediction.

Seminars in cancer biology
Pancreatic ductal adenocarcinoma (PDAC) is recognized as one of the most lethal malignancies, characterized by late-stage diagnosis and limited therapeutic options. Risk stratification has traditionally been performed using epidemiological studies an...