A SNP resource for human chromosome 22: Extracting dense clusters of SNPs from the genomic sequence

Elisabeth Dawson, Yuan Chen, Sarah Hunt, Luc J. Smink, Adrienne Hunt, Kate Rice, Simon Livingston, Suzannah Bumpstead, Richard Bruskiewich, Pak Sham, Rocky Ganske, Mark Adams, Kazuhiko Kawasaki, Nobuyoshi Shimizu, Shinsei Minoshima, Bruce Roe, David Bentley, Ian Dunham

Research output: Contribution to journalArticlepeer-review

61 Scopus citations


The recent publication of the complete sequence of human chromosome 22 provides a platform from which to investigate genomic sequence variation. We report the identification and characterization of 12,267 potential variants (SNPs and other small insertions/deletions) of human chromosome 22, discovered in the overlaps of 460 clones used for the chromosome sequencing. We found, on average, 1 potential variant every 1.07 kb and approximately 18% of the potential variants involve insertions/deletions. The SNPs have been positioned both relative to each other, and to genes, predicted genes, repeat sequences, other genetic markers, and the 2730 SNPs previously identified on the chromosome. A subset of the SNPs were verified experimentally using either PCR-RFLP or genomic Invader assays. These experiments confirmed 92% of the potential variants in a panel of 92 individuals. [Details of the SNPs and RFLP assays can be found at http://www.sanger.ac.uk and in dbSNP.].

Original languageEnglish (US)
Pages (from-to)170-178
Number of pages9
JournalGenome research
Issue number1
StatePublished - 2001

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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