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The U.S. Human Genome Project (HGP), composed of the DOE and NIH Human
Genome Programs, is the national coordinated effort to characterize all
human genetic material by determining the complete sequence of the DNA
in the human genome. The HGP's ultimate goal has been to discover all
the more than 30,000 human genes and render them accessible for further
biological study. To facilitate the future interpretation of human gene
function, parallel studies have been carried out on selected model
organisms. View timeline and history for background information on the
project.
The HGP will meet an ambitious schedule to complete the full sequence in
2003, two years ahead of previous projections. Technology available
shortly after the start of the HGP in 1990 could have been used to
attain HGP objectives, but the cost and time required would have been
unacceptable. Because of this, a major emphasis of the project's early
years was to optimize existing methods and develop new technologies to
increase DNA mapping and
 sequencing efficiency by 10- to 20-fold. The
genome was sequenced with technologies and methods that evolved over the
past 10 years.
In the course of completing the sequence, an interim "working draft" of
the human sequence was produced and published in Nature (15 February,
2001) simultaneously with a companion publication of the human sequence
generated by Celera Genomics Corporation (Science, 16 February, 2001).
Other goals have involved further improving sequencing technologies;
studying human genome sequence variation, both at the level of single
nucleotides (single nucleotide polymorphisms, or SNPs) and entire
chromosomal segments, referred to as haplotypes; sequencing the mouse,
rat, frog, pufferfish, and sea squirt genomes; and sequencing of
additional microbial genomes. All this supports ongoing efforts in
comparative genomics, the most powerful way to elucidate the roles of
the many related genes observed in the genomes of these model organisms.
The DOE Human Genome Program also has developed high-throughput
approaches to identify cis-regulatory sequences in the human and other
genomes, based on shared nonprotein-coding sequences in the genomes of
such evolutionarily diverse organisms as the sea squirt (Ciona
intestinalis), the pufferfish (Fugu rupribes), and the frog (Xenopus
tropicalis). Additional longstanding elements of the DOE Human Genome
Program have included studies of the ethical, legal, and social
implications (ELSI) of genome research; bioinformatics and computational
biology; training genome scientists; and encouraging cross-disciplinary
interest in genome research by scientists in disciplines such as physics,
engineering, and computation.
The DOE Human Genome Program has supported research projects at
universities, the DOE Joint Genome Institute, DOE-owned national
laboratories, and other research organizations. As part of the
international Human Genome Project, vital and very active genome
research also has been pursued by researchers and science-funding
agencies outside the United States.
Information obtained as part of the HGP will dramatically change almost
all biological and medical research and dwarf the catalog of current
genetic knowledge. Both the methods and data developed through the
project are likely to benefit investigations of many other genomes,
including a large number of commercially important plants and animals.
In a related project to sequence the genomes of environmentally and
industrially interesting microbes, in 1994 DOE initiated the Microbial
Genome Program. For this reason, in addition to the DOE and NIH programs,
genome research is being carried out at agencies such as the U.S.
Department of Agriculture, the National Science Foundation, and the
private sector.
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