ABSTRACT
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.
Subject(s)
Genome, Human , Human Genome Project , Sequence Analysis, DNA , Animals , Chromosome Mapping , Conserved Sequence , CpG Islands , DNA Transposable Elements , Databases, Factual , Drug Industry , Evolution, Molecular , Forecasting , GC Rich Sequence , Gene Duplication , Genes , Genetic Diseases, Inborn , Genetics, Medical , Humans , Mutation , Private Sector , Proteins/genetics , Proteome , Public Sector , RNA/genetics , Repetitive Sequences, Nucleic Acid , Sequence Analysis, DNA/methods , Species SpecificityABSTRACT
We describe a map of 1.42 million single nucleotide polymorphisms (SNPs) distributed throughout the human genome, providing an average density on available sequence of one SNP every 1.9 kilobases. These SNPs were primarily discovered by two projects: The SNP Consortium and the analysis of clone overlaps by the International Human Genome Sequencing Consortium. The map integrates all publicly available SNPs with described genes and other genomic features. We estimate that 60,000 SNPs fall within exon (coding and untranslated regions), and 85% of exons are within 5 kb of the nearest SNP. Nucleotide diversity varies greatly across the genome, in a manner broadly consistent with a standard population genetic model of human history. This high-density SNP map provides a public resource for defining haplotype variation across the genome, and should help to identify biomedically important genes for diagnosis and therapy.
