A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
Top Cited Papers
Open Access
- 15 February 2001
- journal article
- research article
- Published by Springer Science and Business Media LLC in Nature
- Vol. 409 (6822), 928-933
- https://doi.org/10.1038/35057149
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.Keywords
This publication has 32 references indexed in Scilit:
- Initial sequencing and analysis of the human genomeNature, 2001
- Genome-wide analysis of single-nucleotide polymorphisms in human expressed sequencesNature Genetics, 2000
- A Greedy Algorithm for Aligning DNA SequencesJournal of Computational Biology, 2000
- Sequence Diversity in 36 Candidate Genes for Cardiovascular DisordersAmerican Journal of Human Genetics, 1999
- Large-scale sequence comparisons reveal unusually high levels of variation in the HLA-DQB1 locus in the class II region of the human MHCJournal of Molecular Biology, 1998
- Large-Scale Identification, Mapping, and Genotyping of Single-Nucleotide Polymorphisms in the Human GenomeScience, 1998
- Single nucleotide polymorphism hunting in cyberspaceHuman Mutation, 1998
- The New Genomics: Global Views of BiologyScience, 1996
- The Future of Genetic Studies of Complex Human DiseasesScience, 1996
- Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomalNature, 1985