The Human Genome Sequence Expedition: Views from the “Base Camp”
- Eric D. Green1,3 and
- Aravinda Chakravarti2
- 1Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA; 2McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
This extract was created in the absence of an abstract.
The past year has brought unprecedented public attention to biomedical research, with a particularly intense focus on the Human Genome Project and the completion of a first-generation ∼3-billion-basepair human genome sequence. Much of this attention related to the competition between the two parallel, yet separate, efforts of the publicly-funded International Human Genome Sequencing Consortium and the private company Celera Genomics. Despite the apparent rancor between the groups, two celebratory events notably punctuate the past year: the joint media announcement in late June 2000 that both groups had generated a “working draft” sequence of the human genome and the two landmark scientific publications in February 2001 that describe the efforts of each project (International Human Genome Sequencing Consortium 2001; Venter et al. 2001).
Numerous grandiose clichés and metaphors have been used to convey the magnitude of these accomplishments and their associated implications for biomedical research and clinical medicine. Here we add one more to this list. Our choice for capturing the essence of contemporary human genome analysis is an analogy to a mountain climbing expedition, one where significant progress has been made to provide a spectacular view of the genetic landscape. But this is not an expedition that is complete, with uncertain—yet exciting—genomic terrain ahead. Indeed, the Human Genome Project is now firmly at the “base camp” of the expedition to elucidate the human genetic blueprint and to begin to understand its content. Nevertheless, this is a milestone of tremendous significance and excitement.
Here we outline some of the key lessons learned during the initial analysis of the human genome sequence. We highlight a few of the many remaining questions in understanding the genome's structure and function, with most answers likely becoming available later in the expedition. Finally, we preview the anticipated climb to the final summit and the …
