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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2001-02

AUTHORS

R Sachidanandam, D Weissman, S C Schmidt, J M Kakol, L D Stein, G Marth, S Sherry, J C Mullikin, B J Mortimore, D L Willey, S E Hunt, C G Cole, P C Coggill, C M Rice, Z Ning, J Rogers, D R Bentley, P Y Kwok, E R Mardis, R T Yeh, B Schultz, L Cook, R Davenport, M Dante, L Fulton, L Hillier, R H Waterston, J D McPherson, B Gilman, S Schaffner, W J Van Etten, D Reich, J Higgins, M J Daly, B Blumenstiel, J Baldwin, N Stange-Thomann, M C Zody, L Linton, E S Lander, D Altshuler

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. More... »

PAGES

928

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  • Journal

    TITLE

    Nature

    ISSUE

    6822

    VOLUME

    409

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/35057149

    DOI

    http://dx.doi.org/10.1038/35057149

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1046153445

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/11237013


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