This work explains the importance and applications of genetic variation detection, a highly sensitive and cost-effective technology used to explore the pivotal relationship of sequence variability and function. A select group of scientists who have adopted this new technology explain the fundamentals of genetic variation detection, as well as some of the innovative applications they have developed themselves. Included are discussions of the influence of PCR on dHPLC polymorphism characterization and mutation analysis of LDLR mutations in patients with familial hypercholesterolaemia.