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Introduction: putting it together

Nature Genetics volume 35, pages 5–8 (2003)Cite this article

In its short history, the Human Genome Project (HGP) has provided significant advances in the understanding of gene structure and organization, genetic variation, comparative genomics and appreciation of the ethical, legal and social issues surrounding the availability of human sequence data. One of the most significant milestones in the history of this project was met in February 2001 with the announcement and publication of the draft version of the human genome sequence1. The significance of this milestone cannot be understated, as it firmly marks the entrance of modern biology into the genome era (and not the post-genome era, as many have stated). The potential usefulness of this rich databank of information should not be lost on any biologist: it provides the basis for 'sequence-based biology', whereby sequence data can be used more effectively to design and interpret experiments at the bench. The intelligent use of sequence data from humans and model organisms, along with recent technological innovation fostered by the HGP, will lead to important advances in the understanding of diseases and disorders having a genetic basis and, more importantly, in how health care is delivered from this point forward2.

Although this flood of data has enormous potential, many investigators whose research programs stand to benefit in a tangible way from the availability of this information have not been able to capitalize on its potential. Some have found the data difficult to use, particularly with respect to incomplete human genome draft sequence information. Others are simply not sufficiently conversant with the seeming myriad of databases and analytical tools that have arisen over the last several years. To assist investigators and students in navigating this rapidly expanding information space, numerous World Wide Web sites, courses and textbooks have become available; many individuals, of course, also turn to their friends and colleagues for guidance. We have prepared this Guide in that same spirit, as an additional resource for our fellow scientists who wish to make use (or better use) of both sequence data and the major tools that can be used to view these data. The Guide has been written in a practical, question-and-answer format, with step-by-step instructions on how to approach a representative set of problems using publicly available resources. The reader is encouraged to work through the examples, as this is the best way to truly learn how to navigate the resources covered and become comfortable using them on a regular basis. We suggest that readers keep copies of the Guide next to their computers as an easy-to-use reference.

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Introduction: putting it together. Nat Genet 35 (Suppl 1), 5–8 (2003). https://doi.org/10.1038/ng1188

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