Latest AI and machine learning research in genetics for healthcare professionals.
Many genetic loci were identified as associated with neuropsychiatric disorders and neurodegenerative disorders by Genome-wide association studies (GWAS). How these loci impact these diseases is unclear. Advances in deep-learning approaches and multi-omics data have the potential to link GWAS findings with disease mechanisms. Here, we proposed the Multi-omics Graph Transformer Network (MOGT), a se...
BACKGROUND: Despite significant advancements in genetic diagnosis, there are still bottlenecks in DNA-level testing. Challenges to diagnosis include the inability to identify the causal variant, and the lack of functional evidence leading to an accumulation of variants of uncertain significance (VUS). Recently, there has been growing evidence demonstrating the diagnostic value of RNA sequencing (R...
In Mesoamerica, new cases of chronic kidney disease of unknown cause (CKDu) are increasing each year, including those requiring renal replacement ther...
MOTIVATION: 5-Methylcytosine (5mC) plays an important role in gene regulation and development. Although nanopore sequencing has enabled direct detecti...
Horizontal gene transfer (HGT) is widely recognized as a major driver of antimicrobial resistance (AMR) dissemination, with genomic islands (GIs) as o...
The health informatics field's pursuit of personalized healthcare continuously faces constraints from patients, clinicians, and resource limitations. ...
BACKGROUND: Lactate promotes histone lactylation, which affects protein transcription and translation, thereby influencing tumour cell progression. Ho...
Artificial Intelligence (AI) is reshaping oncology by addressing key limitations in traditional cancer care and enabling data-driven, personalized app...
BACKGROUND: Neoadjuvant chemoradiotherapy (nCRT) is the standard treatment for locally advanced rectal cancer (LARC), yet clinically validated biomark...
Rodents are substantial reservoirs of zoonotic viruses with regular human exposure restricted to a limited number of species. Numerous rodent species ...
BACKGROUND: Genomic prediction (GP) is a central component of modern plant breeding, enabling the early selection of superior genotypes based on genom...
The global burden of chronic and genetic kidney diseases poses a significant challenge to healthcare systems. Current therapies, including dialysis, t...
INTRODUCTION: Biomarker-guided stratification is essential for optimizing adjuvant systemic therapy in early-stage breast cancer, requiring a balance ...
Cell-free DNA (cfDNA) offers a minimally invasive approach to capture genomic and epigenetic dynamics during cancer progression. We performed targeted...
This issue of the Biomedical Journal explores emerging perspectives across neuropsychiatry, metabolism, aging, regenerative medicine, artificial intel...
BACKGROUND: Reanalysis - the process of re-examining a person's existing genomic data based on new knowledge or technology - has the potential to grea...
Surface-enhanced Raman spectroscopy (SERS) is increasingly emerging as a pivotal analytical technique in the field of clinical diagnostics. The diagno...
Riboflavin is an essential water-soluble vitamin that serves as a precursor for the biosynthesis of the flavin cofactors FMN and FAD, which play pivot...
BACKGROUND: Lung adenocarcinoma (LUAD), the predominant histological subtype of non-small cell lung cancer, remains a leading cause of cancer-related ...
The incidence of osteoarticular infections is steadily increasing, driven by rising road traffic injuries, greater longevity, increasing comorbidities...