Submicroscopic structural variations: A de novo tool for molecular anthropogenetics.

In the quest for better genomic coverage and the need for a complete spectrum of genetic variability of complex human phenotypes, the role of larger variations, i.e. copy number variations (CNVs) excites medical geneticists and molecular anthropologists. CNVs are the technological 'missing link' filling the gap between the limits of sequence variation detection and traditional cytogenetic variation analysis. These variations are generally termed as structural variations, which includes microscopic or submicroscopic segments of DNA larger than 1 kb in size. Molecular anthropogeneticists must utilize this new tool for studying population structure defined in terms of genome diversity and hence must contribute with their efforts in the exploitation of genetic architecture of complex disorders. [ABSTRACT FROM AUTHOR]