As leaders of the Human Genome Project announced the project's successful completion at a press conference today in Bethesda, MD, bioinformatics researchers at the University of California, Santa Cruz, made the completed reference sequence of the human genome publicly available on the web-based UCSC Genome Browser (http://genome.ucsc.edu). This was also the first site to make the initial working draft of the human genome publicly available in June 2000.
The UCSC Genome Browser provides a web-based "microscope" for exploring the human genome sequence and is used daily by thousands of biomedical researchers throughout the world, said David Haussler, a Howard Hughes Medical Institute investigator and holder of the UC Presidential Chair in Computer Science at UCSC.
"We have now built the browser on top of the finished genome sequence. That sequence will serve as a new foundation for medicine and human biology, and our browser will form the most popular portal to explore our shared genetic heritage," said Haussler, who directs UCSC's Center for Biomolecular Science and Engineering (CBSE).
The center's Genome Bioinformatics Group worked long hours to get the browser ready for today's announcement of the finished sequence. HHMI postdoctoral researcher Terrence Furey led an effort to ensure that the locations of as many known genes as possible were identified in the genome sequence.
CBSE research scientist James Kent, who earlier assembled the first working draft of the human genome, created the UCSC Genome Browser. The browser displays the genome in alignment with dozens of annotation tracks contributed by researchers at UCSC and collaborators worldwide.
"We have 51 annotation tracks aligned with the genome sequence, so the browser is very rich in information," said Fan Hsu, director of proteomics at CBSE.
The browser is now maintained by a team of engineers led by Kent. It is linked to key additional resources at the European Bioinformatics Institute (http://www.ensembl.org) and the National Center for Biotechnology Information (http://www.ncbi.nlm.nih.gov/mapview/).
In addition to Haussler, Kent, Furey, and Hsu, many other members of the UCSC Genome Bioinformatics group worked long hours to ensure the success of the UCSC Genome Browser and human genome data releases. They include Matt Schwartz, Angie Hinrichs, Heather Trumbower, Donna Karolchik, Chuck Sugnet, Mark Diekhans, Ryan Weber, Robert Baertsch, Yontao Lu, Krishna Roskin, and several other graduate students in the Haussler lab.
As the focus of the human genome research community shifts from sequencing to sequence analysis, the UCSC Genome Browser is well positioned to fill an essential role in uncovering the causes, treatments, and prevention of disease and in exploring our shared genetic heritage, Haussler said.
"The Human Genome Sequencing Consortium has given us an extraordinary gift. The finished human genome sequence is like a finely polished mirror, reflecting ourselves at the molecular level with unprecedented scope and accuracy," he said. "I am extremely proud that the UCSC Genome Bioinformatics group has been able to play a role in this great achievement."
