Figure 1

Patterns of evolutionary constraints in the human genome. (A) An example is shown where two statistics are studied at a polymorphic coding nucleotide position. The first is short term evolution as derived allele frequency (DAF), reflecting the of drift from the base present in the common ancestor of human and chimpanzee towards a new base in the human lineage. The second is long term evolution (GERP) or the extent of divergence of that base across the mammals considered. Please note that only a few mammals are shown to maintain clarity. (B) At a polymorphic position, integrating short and long term evolution, four basic patterns of evolutionary constraints are possible. Divergence at a base-position among mammals is estimated by the GERP (Genome Evolutionary Rate Profiling) score.