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

  title={A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms.},
  author={Ravi Sachidanandam and Drew Weissman and Steven Schmidt and Jerzy Kakol and Lincoln D. Stein and Gabor T. Marth and Stephen H Sherry and James C. Mullikin and B. J. Mortimore and David Willey and Sarah E. Hunt and C. Greifinger J. D. Cole and Penny C. Coggill and Catherine M. Rice and Zemin Ning and Jane Rogers and D. R. Bentley and Pui-Yan Kwok and Elaine R. Mardis and Raymond T. Yeh and Brian Schultz and Lisa Cook and R. R. Davenport and Mike Dante and Lucinda Fulton and L G Hillier and Robert H. Waterston and John D. McPherson and Benjamin Gilman and S Schaffner and William J Van Etten and Dan Reich and Janet Higgins and Mark J. Daly and Brendan Blumenstiel and Jennifer DeLuca Baldwin and Nicole Stange-thomann and Michael C. Zody and Lauren Linton and Eric S. Lander and David Altshuler},
  volume={409 6822},
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… CONTINUE READING
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Genome-wide analysis of single-nucleotide polymorphisms in human expressed sequences

  • K Irizarry
  • Nature Genet
  • 2000

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