Impact of Genetic Variation on Human Disease: From Genomics to Phenotype

Abstract

The impact of genetic variation on human disease is a multifaceted phenomenon involving genomics, epigenetics, and phenotype relationships. Advances in human genetic analysis technology have revolutionized our understanding of genetic disorders, enabling large-scale screens to explore associations between sequence variants and disease susceptibility. Environmental stimuli also contribute to epigenetic modifications that shape gene expression and phenotypic traits. Recent research on monozygotic twins highlights the role of non-genetic factors in phenotypic differences, underscoring the complex interplay between genetics and environment. The literature review highlights seminal studies that elucidate genetic and evolutionary mechanisms underlying human disease, providing insights for personalized medicine. Methods such as pharmacogenetics and immunomics provide avenues for precision therapies and immunological research. The Heterogeneity Weighted U test and the Gaussian random effects model facilitate the exploration of phenotype-genotype relationships and help to assess genetic heterogeneity in disease models. Simulation experiments deepen our understanding of the impact of genetic variation on disease manifestation. The interdisciplinary approaches are crucial to unravel the complex genetic landscape of human diseases and to develop tailored therapeutic interventions.