RT Journal
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
JF Genome Research 
JO Genome Research 
YR 2001 
FD January 01 
VO 11 
IS 1 
SP 170 
OP 178 
DO 10.1101/gr.156901 
UL http://genome.cshlp.org/content/11/1/170.abstract 
AB 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.]