First Diploid Human Genome Sequence Shows We're Surprisingly Different

This new genome represents the first time a true diploid genome from one individual -- Dr. J. Craig Venter, has been published. From the combined data of more than 20 billion base pairs of DNA, the team was able to assemble the majority of Dr. Venter's genome. Since this genome assembly uniquely catalogues the contributions of each of the parental chromosomes, for the first time the amount of variation existing between the two could be determined. Surprisingly, a higher than expected amount of genetic variation was found to exist between the two human chromosomes. Dr. Venter commented that human variation is five to seven-fold greater than earlier estimates.