Over the past several decades, classical molecular biology and cytogenetic techniques have enabled the study of DNA sequence variation at the smallest and largest scales of size. Between these two extremes, and beyond the reach of classical approaches, lay, until very recently, a largely uncharted realm involving variation of intermediate scale. Advances in technology have now begun to reveal this treasure-trove of large-scale, submicroscopic variation, and the impact on the field of human genetics has been dynamic and far-reaching.
