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

TitleA SNP resource for human chromosome 22: Extracting dense clusters of SNPs from the genomic sequence
Authors
Issue Date2001
PublisherCold Spring Harbor Laboratory Press, Publications Department. The Journal's web site is located at http://www.genome.org
Citation
Genome Research, 2001, v. 11 n. 1, p. 170-178 How to Cite?
AbstractThe 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.].
Persistent Identifierhttp://hdl.handle.net/10722/175922
ISSN
2015 Impact Factor: 11.351
2015 SCImago Journal Rankings: 14.352
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorDawson, Een_US
dc.contributor.authorChen, Yen_US
dc.contributor.authorHunt, Sen_US
dc.contributor.authorSmink, LJen_US
dc.contributor.authorHunt, Aen_US
dc.contributor.authorRice, Ken_US
dc.contributor.authorLivingston, Sen_US
dc.contributor.authorBumpstead, Sen_US
dc.contributor.authorBruskiewich, Ren_US
dc.contributor.authorSham, Pen_US
dc.contributor.authorGanske, Ren_US
dc.contributor.authorAdams, Men_US
dc.contributor.authorKawasaki, Ken_US
dc.contributor.authorShimizu, Nen_US
dc.contributor.authorMinoshima, Sen_US
dc.contributor.authorRoe, Ben_US
dc.contributor.authorBentley, Den_US
dc.contributor.authorDunham, Ien_US
dc.date.accessioned2012-11-26T09:02:32Z-
dc.date.available2012-11-26T09:02:32Z-
dc.date.issued2001en_US
dc.identifier.citationGenome Research, 2001, v. 11 n. 1, p. 170-178en_US
dc.identifier.issn1088-9051en_US
dc.identifier.urihttp://hdl.handle.net/10722/175922-
dc.description.abstractThe 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.].en_US
dc.languageengen_US
dc.publisherCold Spring Harbor Laboratory Press, Publications Department. The Journal's web site is located at http://www.genome.orgen_US
dc.relation.ispartofGenome Researchen_US
dc.subject.meshBase Compositionen_US
dc.subject.meshChromosome Deletionen_US
dc.subject.meshChromosome Mappingen_US
dc.subject.meshChromosomes, Human, Pair 22 - Chemistry - Geneticsen_US
dc.subject.meshDna Transposable Elements - Geneticsen_US
dc.subject.meshGenetic Variationen_US
dc.subject.meshGenome, Humanen_US
dc.subject.meshHumansen_US
dc.subject.meshPolymorphism, Single Nucleotide - Geneticsen_US
dc.subject.meshReproducibility Of Resultsen_US
dc.titleA SNP resource for human chromosome 22: Extracting dense clusters of SNPs from the genomic sequenceen_US
dc.typeArticleen_US
dc.identifier.emailSham, P: pcsham@hku.hken_US
dc.identifier.authoritySham, P=rp00459en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1101/gr.156901en_US
dc.identifier.pmid11156626-
dc.identifier.scopuseid_2-s2.0-17744396306en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-17744396306&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume11en_US
dc.identifier.issue1en_US
dc.identifier.spage170en_US
dc.identifier.epage178en_US
dc.identifier.isiWOS:000166361700017-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridDawson, E=7102147964en_US
dc.identifier.scopusauthoridChen, Y=12777422000en_US
dc.identifier.scopusauthoridHunt, S=7402383506en_US
dc.identifier.scopusauthoridSmink, LJ=6602165091en_US
dc.identifier.scopusauthoridHunt, A=7201427166en_US
dc.identifier.scopusauthoridRice, K=7201911578en_US
dc.identifier.scopusauthoridLivingston, S=18536162300en_US
dc.identifier.scopusauthoridBumpstead, S=22953004000en_US
dc.identifier.scopusauthoridBruskiewich, R=6603492167en_US
dc.identifier.scopusauthoridSham, P=34573429300en_US
dc.identifier.scopusauthoridGanske, R=6507137769en_US
dc.identifier.scopusauthoridAdams, M=7403905579en_US
dc.identifier.scopusauthoridKawasaki, K=35353958300en_US
dc.identifier.scopusauthoridShimizu, N=7403575683en_US
dc.identifier.scopusauthoridMinoshima, S=7102383696en_US
dc.identifier.scopusauthoridRoe, B=24547991400en_US
dc.identifier.scopusauthoridBentley, D=7101896081en_US
dc.identifier.scopusauthoridDunham, I=7005382935en_US

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