Pigmentation varies widely across humans and is shaped by melanin quantity, type, and spatial distribution. Retinal pigmentation protects against light-induced damage, yet its genetic and evolutionary bases remain unclear. We developed a deep learnin...
Prostate cancer (PrCa) incidence and severity vary across ancestries; men of African ancestry (AA) are more likely to be diagnosed and die from PrCa than those of European ancestry (EA). Current polygenic risk scores, even from multi-ancestry GWAS, d...
Cognitive abilities are closely tied to mental health from early childhood. This study explores how neurobiological units of analysis of cognitive abilities-multimodal neuroimaging and polygenic scores (PGS)-represent this connection. Using data from...
Recent studies have demonstrated that for various diseases, incorporating polygenic risk scores (PRSs) for other traits and diseases into the PRS-based risk prediction model may improve predictive performance - known as Multiple Polygenic Score (MPS)...
BACKGROUND: Breast cancer is one of the most prevalent malignancies globally, imposing a substantial disease burden. Its inherent heterogeneity complicates prognosis and treatment, underscoring the need for accurate survival prediction models to guid...
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...
BACKGROUND: Few individuals with alcohol use disorder (AUD) receive treatment. Previous studies have shown drinking behavior, psychological problems, and substance dependence to predict treatment seeking. However, to date, no studies have incorporate...
Proceedings of the National Academy of Sciences of the United States of America
Jun 12, 2025
The relationship between genotype and phenotype remains an outstanding question for organism-level traits because these traits are generally . The challenge arises from complex traits being determined by a combination of multiple genes (or loci), whi...
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...
BACKGROUND: Internet-delivered cognitive behavioural therapy (ICBT) is an effective and accessible treatment for mild to moderate depression and anxiety disorders. However, up to 50% of patients do not achieve sufficient symptom relief. Identifying p...
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