Prof. Tomas Marques-Bonet

Although human genome diversity has been the subject of extensive research in the last 30 years, the diversity of great apes has been much less explored. We set out to understand the full spectrum of genetic diversity from single nucleotide to large structural variation using high-coverage next-generation sequencing of a diverse sample of 80 great apes. The set includes wild-born/unrelated specimens from all major subspecies. We found that chimpanzee subspecies are divided in two main clades and show the most complex population history with heterozygosities ranging from approximately equal to twice that of humans. We show that structural variation and loss of function mutations have been accumulated at different rates in different lineages in the great ape and human phylogeny. These data provide a rich resource to understand the biology of great apes, reconstruct their population history and improve conservation efforts for these remarkable species.