A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms.

Nature
Authors
Keywords
Abstract

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.

Year of Publication
2001
Journal
Nature
Volume
409
Issue
6822
Pages
928-33
Date Published
2001 Feb 15
ISSN
0028-0836
DOI
10.1038/35057149
PubMed ID
11237013
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