Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Neonatology Service, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), A Choupana, s/n, 15706 Santiago de Compostela, A Coruña, Spain
Genetic epidemiology is the study of genetic factors and their influence on health and disease. Traditionally, these studies have been based on familial aggregation, segregation, or linkage analysis, mainly allowing the study of monogenic disorders. Advances in biotechnology have made techniques such as genome-wide association studies and next-generation sequencing possible, allowing more complex studies. In addition to the completion of large consortia projects, such as the Human Genome Project, ENCODE, and the 1000 Genome Project, these techniques make it possible to explain a higher proportion of the heritability in polygenic disorders compared to previous techniques. Here, we provide an overview of approaches to genetic epidemiology and how technological improvements have influenced experimentation in this area. These improvements have led genetic epidemiology to unprecedented advances, being excellent tools for understanding the genetic variability underlying complex phenotypes.
