The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence. The rediscovery of Mendel's laws of heredity in the opening weeks of the 20th century 1±3 sparked a scienti®c quest to understand the nature and content of genetic information that has propelled biology for the last hundred years. The scienti®c progress made falls naturally into four main phases, corresponding roughly to the four quarters of the century. The ®rst established the cellular basis of heredity: the chromosomes. The second de®ned the molecular basis of heredity: the DNA double helix. The third unlocked the informa-tional basis of heredity, with the discovery of the biological mechan-ism 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 last quarter of a century has been marked by a relentless drive to decipher ®rst genes and then entire genomes, spawning the ®eld of genomics. 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. 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 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. The sequence was produced over a relatively short period, with coverage rising from about 10% to more than 90% over roughly ®fteen months. The sequence data have been made available without restriction and updated daily throughout the project. The task ahead is to produce a ®nished sequence, by closing all gaps and resolving all ambiguities. Already about one billion bases are in ®nal form and the task of bringing the vast majority of the sequence to this standard is now straightforward and should proceed rapidly. The sequence of the human genome is of interest in several respects. It is the largest genome to be extensively sequenced so far, being 25 times as large as any previously sequenced genome and eight times as large as the sum of all such genomes. It is the ®rst vertebrate genome to be extensively sequenced. And, uniquely, it is the genome of our own species. Much work remains to be done to produce a complete ®nished sequence, but the vast trove of information that has become available through this collaborative effort allows a global perspective on the human genome. Although the details will change as the sequence is ®nished, many points are already clear. X The genomic landscape shows marked variation in the distribu-tion of a number of features, including genes, transposable elements, GC content, CpG islands and recombination rate. This gives us important clues about function. For example, the devel-opmentally important HOX gene clusters are the most repeat-poor regions of the human genome, probably re¯ecting the very complex
