Researchers in the Department of Energy Joint Genome Institute and Stanford Human Genome Center have reached a halfway point in decoding the human genome by finishing chromosome 5, the 12th chromosome finished, with 12 more to go.

The fifth chromosome contains key disease genes and a wealth of information about how humans evolved. This large chromosome contains 923 genes, including 66 genes known to be involved in human disease. Another 14 diseases seem to be caused by chromosome 5 genes, but they haven’t yet been linked to a specific gene.

Hidden in the chromosome 5 sequence are clues to how humans evolved after branching away from chimpanzees. On average, the chromosome is more than 99 percent similar between chimpanzees and humans, with the greatest similarity found in genes that cause diseases when mutated.

Joint Genome Institute news release