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

The International SNP Map Working Group

Research output: Contribution to journalArticle

2257 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)928-933
Number of pages6
JournalNature
Volume409
Issue number6822
DOIs
StatePublished - Feb 15 2001
Externally publishedYes

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Human Genome
Single Nucleotide Polymorphism
Exons
Genome
Untranslated Regions
Genetic Models
Population Genetics
Genetic Therapy
Haplotypes
Nucleotides
Clone Cells
History
Genes

ASJC Scopus subject areas

  • Medicine(all)
  • General

Cite this

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. / The International SNP Map Working Group.

In: Nature, Vol. 409, No. 6822, 15.02.2001, p. 928-933.

Research output: Contribution to journalArticle

The International SNP Map Working Group. / A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. In: Nature. 2001 ; Vol. 409, No. 6822. pp. 928-933.
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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.",
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