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Bioinformatics: A Practical Guide to the Analysis of Genes and Proteins
I am writing these words on a watershed day in molecular biology. This morning, a
paper was officially published in the journal Nature reporting an initial sequence and
analysis of the human genome. One of the fruits of the Human Genome Project, the
paper describes the broad landscape of the nearly 3 billion bases of the euchromatic
portion of the human chromosomes.
In the most narrow sense, the paper was the product of a remarkable international
collaboration involving six countries, twenty genome centers, and more than a thousand
scientists (myself included) to produce the information and to make it available
to the world freely and without restriction.
In a broader sense, though, the paper is the product of a century-long scientific
program to understand genetic information. The program began with the rediscovery
of Mendel’s laws at the beginning of the 20th century, showing that information was
somehow transmitted from generation to generation in discrete form. During the first
quarter-century, biologists found that the cellular basis of the information was the
chromosomes. During the second quarter-century, they discovered that the molecular
basis of the information was DNA. During the third quarter-century, they unraveled
the mechanisms by which cells read this information and developed the recombinant
DNA tools by which scientists can do the same. During the last quarter-century,
biologists have been trying voraciously to gather genetic information-first from
genes, then entire genomes.
The result is that biology in the 21st century is being transformed from a purely
laboratory-based science to an information science as well. The information includes
comprehensive global views of DNA sequence, RNA expression, protein interactions
or molecular conformations. Increasingly, biological studies begin with the study of
huge databases to help formulate specific hypotheses or design large-scale experiments.
In turn, laboratory work ends with the accumulation of massive collections
of data that must be sifted. These changes represent a dramatic shift in the biological
sciences.
One of the crucial steps in this transformation will be training a new generation
of biologists who are both computational scientists and laboratory scientists. This
major challenge requires both vision and hard work: vision to set an appropriate
agenda for the computational biologist of the future and hard work to develop a
curriculum and textbook.
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