SCIENTIFIC INSIGHTS INTO POPULATION FROM THE PERSPECTIVES OF GENOME DIVERSITY(<Special Issue>Variations in Physiological Functions)

Abstract

Recent advances in technologies for genomic analysis have led to the discovery of a vast amount of sequence variations in the human genome. The growing list of these genomic variations, largely single nucleotide polymorphisms, is highly useful for the identification of genetic variations underlying the physiological polymorphisms and disease susceptibilities in the present human populations. Moreover, the understanding of variations in the human genome sheds light on the evolution of medical and non-medical traits in modern humans. In the present paper, I review the knowledge obtained from recent studies on the genomic diversity in human populations, especially in terms of medical traits and evolution.