The human genome is the complete set of human genetic information, stored as DNA sequences within the 23 chromosome pairs of the cell nucleus and in a small DNA molecule within the mitochondrion. In this publication, the authors present topical research in the study of the components, structural and functional disorders; and ethical issues of the human genome. Topics discussed include critical events in the pathobiology of cancer and the compilation of major biomarkers enabling improved diagnosis; and the evolution of human genome analysis and its impact on disease diagnosis and molecular diagnostics.