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An Overview of the Human Genome Project

The Completion of the Sequence and Remaining Goals

In 2003, an accurate and complete human genome sequence was finished and made available to scientists and researchers two years ahead of the original HGP schedule and at a cost less than the original estimated budget. With the completion of the HGP, the mission of the NHGRI has expanded to include studies aimed at understanding how the human genome functions in the role of creating gene products, most notably the many proteins for which genes code.

NHGRI Mission and Goals

In late 2001 through 2002, NHGRI gathered the world's leading genome researchers to discuss and determine the direction of future research at two large "bookend" meetings called Beyond the Beginning: The Future of Genomics I and II (See: Long-Range Planning: Reports and Publications) and held workshops throughout 2002 to discuss specific areas of genomic research, policy, education and ethics.

The specific ideas and recommendations that arose from these sessions has informed the next stage of genomic research, resulting in a vision document authored by the leadership at NHGRI: A Vision for the Future of Genomics Research. The overarching mission of the HGP and the NHGRI, however, remains the same: the quest to understand the human genome and the role it plays in both health and disease.

Francis Collins called the publication in February 2001 of the majority of the human genome "the end of the beginning."With the completion of the HGP in April 2003, his words continue to ring true. Writing in a 2001 article for Genome Research titled: Contemplating the End of the Beginning [] Collins explained:

Critical understanding of gene expression, the connection between sequence variations and phenotype, large-scale protein-protein interactions, and a host of other global analyses of human biology can now get seriously underway. For me, as a physician, the true payoff from the HGP will be the ability to better diagnose, treat and prevent disease, and most of those benefits to humanity still lie ahead. With these immense data sets of sequence and variation now in hand, we are now empowered to pursue those goals in ways undreamed of a few years ago.

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Last Reviewed: December 27, 2012

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Human Genome Resources
Access to the full human sequence