title: A SNP resource for human chromosome 22: extracting dense clusters of SNPs from the genomic sequence.
abstract: 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.]
authors.affiliation: The Sanger Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
authors.forename: E
authors.initials: E
authors.lastname: Dawson
authors.forename: Y
authors.initials: Y
authors.lastname: Chen
authors.forename: S
authors.initials: S
authors.lastname: Hunt
authors.forename: L J
authors.initials: LJ
authors.lastname: Smink
authors.forename: A
authors.initials: A
authors.lastname: Hunt
authors.forename: K
authors.initials: K
authors.lastname: Rice
authors.forename: S
authors.initials: S
authors.lastname: Livingston
authors.forename: S
authors.initials: S
authors.lastname: Bumpstead
authors.forename: R
authors.initials: R
authors.lastname: Bruskiewich
authors.forename: P
authors.initials: P
authors.lastname: Sham
authors.forename: R
authors.initials: R
authors.lastname: Ganske
authors.forename: M
authors.initials: M
authors.lastname: Adams
authors.forename: K
authors.initials: K
authors.lastname: Kawasaki
authors.forename: N
authors.initials: N
authors.lastname: Shimizu
authors.forename: S
authors.initials: S
authors.lastname: Minoshima
authors.forename: B
authors.initials: B
authors.lastname: Roe
authors.forename: D
authors.initials: D
authors.lastname: Bentley
authors.forename: I
authors.initials: I
authors.lastname: Dunham
mesh_terms: D001482:Base Composition; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22 / Q000737:chemistry / Q000235:genetics*; D004251:DNA Transposable Elements / Q000235:genetics; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015203:Reproducibility of Results
chemical_list: D004251:DNA Transposable Elements