The human genome and its upcoming dynamics.

Abstract

The mapping, sequencing and analysis of the human genome is a milestone in biomedical research and a fundamental advance in self-knowledge. Because the sequence was intended to serve as a universal and permanent foundation of biomedical research, enormous international efforts were undertaken to reach the highest level of accuracy and completeness possible. The current assembly of the 24 DNA molecules covers approximately 99% of the euchromatic portion. Including gaps, the euchromatin is approximately 2.88 Gb and the overall size of the human genome approximately 3.08 Gb. Repeated sequences account for more than half of the human genome. Remarkable is the high proportion of segmental duplications. Until recently it was assumed that tiny variations in an otherwise universal reference sequence are the genetic bases of individual human traits. Now, with the nearly-complete reference in hands, it becomes increasingly evident, that our concept of genome plasticity has to be extended from seemingly fixed human segmental duplications to interindividual, large-scale structural polymorphisms.