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Genome researchers publish analysis of finished human genome sequence, plan next steps to figure out what it all means

Monday, October 25, 2004
Written by Tim Stephens

A pair of papers published last week in the two leading scientific journals mark the completion of the Human Genome Project and the start of a new project to find all of the functional elements in human DNA. Researchers at UCSC are involved in both projects.

In the October 21 issue of the journal Nature, the International Human Genome Sequencing Consortium published its scientific description of the finished human genome sequence, reducing the estimated number of human protein-coding genes from 35,000 to only 20,000 to 25,000, a surprisingly low number for our species. The Nature publication provides rigorous scientific evidence that the genome sequence produced by the Human Genome Project has both the high coverage and the accuracy needed to perform sensitive analyses, such as those focusing on the number of genes, segmental duplications involved in disease, and the "birth" and "death" of genes over the course of evolution.

" Obtaining the sequence recording our complete genetic heritage has been a huge step for humanity. There is no doubt that this will ultimately transform medicine," said David Haussler, professor of biomolecular engineering and a Howard Hughes Medical Institute investigator, who led UCSC's participation in the Human Genome Project.

The other major paper, published in the October 20 issue of the journal Science, outlines the plans of a research consortium organized by the National Human Genome Research Institute (NHGRI) to produce a comprehensive catalog of all parts of the human genome crucial to biological function. The ENCyclopedia Of DNA Elements (ENCODE) consortium has the ambitious goal of building a "parts list" of all sequence-based functional elements in the human DNA sequence.

" To really use the human genome sequence for medicine, we need to understand how it works—that is, what all the As, Cs, Gs, and Ts are actually doing in the cells in our bodies. This is much harder than reading the DNA sequence," Haussler said. "Through the ENCODE consortium, the same kind of team approach used in the Human Genome Project is being applied to address this much more difficult challenge."