The task ahead is to produce a finished sequence, by closing all gaps and resolving all ambiguities. The sequence data have been made available without restriction and updated daily throughout the project. The sequence was produced over a relatively short period, with coverage rising from about 10% to more than 90% over roughly fifteen months. The draft genome sequence was generated from a physical map covering more than 96% of the euchromatic part of the human genome and, together with additional sequence in public databases, it covers about 94% of the human genome. Here we report the results of a collaboration involving 20 groups from the United States, the United Kingdom, Japan, France, Germany and China to produce a draft sequence of the human genome. The fruits of this work already include the genome sequences of 599 viruses and viroids, 205 naturally occurring plasmids, 185 organelles, 31 eubacteria, seven archaea, one fungus, two animals and one plant.
The last quarter of a century has been marked by a relentless drive to decipher first genes and then entire genomes, spawning the field of genomics. The third unlocked the informational basis of heredity, with the discovery of the biological mechanism by which cells read the information contained in genes and with the invention of the recombinant DNA technologies of cloning and sequencing by which scientists can do the same. The second defined the molecular basis of heredity: the DNA double helix. The first established the cellular basis of heredity: the chromosomes. The scientific progress made falls naturally into four main phases, corresponding roughly to the four quarters of the century. The rediscovery of Mendel's laws of heredity in the opening weeks of the 20th century 1, 2, 3 sparked a scientific quest to understand the nature and content of genetic information that has propelled biology for the last hundred years.
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