TY - JOUR A1 - Dawson, Elisabeth A1 - Chen, Yuan A1 - Hunt, Sarah A1 - Smink, Luc J. A1 - Hunt, Adrienne A1 - Rice, Kate A1 - Livingston, Simon A1 - Bumpstead, Suzannah A1 - Bruskiewich, Richard A1 - Sham, Pak A1 - Ganske, Rocky A1 - Adams, Mark A1 - Kawasaki, Kazuhiko A1 - Shimizu, Nobuyoshi A1 - Minoshima, Shinsei A1 - Roe, Bruce A1 - Bentley, David A1 - Dunham, Ian T1 - A SNP Resource for Human Chromosome 22: Extracting Dense Clusters of SNPs From the Genomic Sequence Y1 - 2001/01/01 JF - Genome Research JO - Genome Research SP - 170 EP - 178 DO - 10.1101/gr.156901 VL - 11 IS - 1 UR - http://genome.cshlp.org/content/11/1/170.abstract N2 - 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.] ER -