Cancer remains one of the leading causes of mortality worldwide, where early detection significantly improves patient outcomes and reduces treatment burden. This study investigates the application of Machine Learning (ML) techniques to predict cancer...
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 ...
We evaluated whether predicted continuous disease representations could enhance genetic discovery beyond case-control genome-wide association study (GWAS) phenotypes across eight complex diseases in up to 485,448 UK Biobank participants. Predicted ph...
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...
Multiple sclerosis (MS) is a multifaceted, chronic neuroinflammatory condition of the central nervous system (CNS) marked by demyelination, gliosis, and axonal degradation. Despite the comprehensive investigation, the exact etiology remains unclear, ...
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...
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 ...
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...
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...
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...
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