Bioinformatics for geneticists: Barnes, M. R., Gray, I. C. (eds.)

Abstract

Barnes, M. R., Gray, I. C. (eds.); John Wiley & Sons, New York, 2003, 350 pp., ISBN 0-470-84394-2, $75.00. The completion of the human genome sequence last year passed with barely a mention in the scientific literature, let alone the mainstream press. This is in stark contrast to the media frenzy surrounding the announcement of the draft human genome in June 2000, with predictions that by now we would be well on the way to eliminating all genetic diseases. Such predictions were obviously way off course, based on a lack of understanding of the steps involved between knowing a genome sequence and linking it to, let alone treating, a disease. Although the vast majority of scientists appreciate this gap, only a small minority have the skills to exploit it, and hence the need for books such as this. Bioinformatics for Geneticists clearly details examples of the ways in which genetics is changing in light of the abundance of sequence data. For example, marker resources and locus information are no longer the main limiting factors in complex disease gene hunting, but geneticists are more than ever required to be competent bioinformaticists. Chapters follow a logical progression from experimental conception through design to implementation, with the scope essentially limited to human genetics, and thus the identification of genes associated with human disease. The two editors author almost half the chapters, with about 20 other authors contributing the rest; however, the flow of the book does not suffer as a result. The unifying theme is that all the authors are full-time practitioners, not theorists, and it is frequently repeated that the bioinformatics tools are intended for providing a limited set of predictions to be tested by “wet” biology. Authors rightly concentrate on explaining the approaches of tools and offer useful hints rather than simply documenting how to use specific tools themselves. Books listing web resources are almost invariably out of date by the time they get to print, because sites move or get removed. However, by concentrating on the major web resources such as those provided by the National Center for Biotechnology Information and the European Bioinformatics Institute, the vast majority of cited links are still accessible, and are likely to be for a reasonably long term. In addition, there is a very useful chapter on internet resources and how to intelligently search the web. The vast majority of web resources and software tools discussed are free to academic users. One minor weakness is the reproduction of figures. Graphical interfaces to the genome browsers contain a great deal of information, both with finely detailed annotation and the use of color to signify different features. Screenshots of such web pages reduced in size do not do them justice. The reproduction of large numbers of color figures in books such as this is obviously not economically viable, and the compromise reached is the duplication of selected figures in full color in the central pages, complementing grayscale figures in the text. Unfortunately, some figures are reproduced so small as to be difficult to see, and others are only reproduced in grayscale even when the accompanying text refers to variously colored attributes. Although this book is aimed primarily at professional geneticists, the numerous worked examples would be useful to anyone putting a course together on this topic.