Genetic mapping of human diseases: a quantitative and functional perspective on gene–pathology relationships [Articol]

Abstract

The classification of human diseases based on genetic contribution has significantly evolved with advancements in genetic research. This study explores the chromosomal distribution of disease-associated genes from a quantitative and functional perspective, aiming to identify genomic regions with a high density of pathogenic associations—so-called genetic hotspots. We integrate data from genome-wide association studies (GWAS) to evaluate genetic overlap among major disease categories, elucidating molecular connections between seemingly unrelated pathologies. The findings highlight the significance of genetic architecture in disease manifestation, offering valuable insights for precision medicine, genetic diagnostics, and targeted therapies.