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Study is conducted to explore the primate evolution and genetic contributions to human physiology and disease, provided by the chimpanzee genome sequence. Nucleotide substitutions, gene duplications, insertions and deletions, retro-transposition and potential karyotypic changes are some of the data and analyses provided by the sequencing of the chimpanzee genome.

The 63 chromosomal segments are identified, ranging in size from 0.65 to 1.3 Mb, that have inferred copy number increases in human relative to chimpanzee by comparative genome hybridation, using a full coverage human BAC array with 79-kb resolution. The observation of increased copy number of a human cluster of core histone genes suggests that altered dosage, even of highly constrained genes, may be an important evolutionary mechanism.

An analysis determined the distribution of each of the 65,536 DNA sequences, eight bases long (8-mer) in a set of 13010 human genomic promoter sequences. Eight DNA sequences in 5082 promoters are identified to be important for regulating gene expression.

Research has been conducted on genetic variation in human and African great ape genomes. The authors have investigated gene-expression profiles in cell populations from humans, bonobos and gorillas in the effort to define transcriptional regulatory network which contribute to the complex phenotypes unique to human and African great apes.