title: An SNP map of human chromosome 22.
abstract: The human genome sequence will provide a reference for measuring DNA sequence variation in human populations. Sequence variants are responsible for the genetic component of individuality, including complex characteristics such as disease susceptibility and drug response. Most sequence variants are single nucleotide polymorphisms (SNPs), where two alternate bases occur at one position. Comparison of any two genomes reveals around 1 SNP per kilobase. A sufficiently dense map of SNPs would allow the detection of sequence variants responsible for particular characteristics on the basis that they are associated with a specific SNP allele. Here we have evaluated large-scale sequencing approaches to obtaining SNPs, and have constructed a map of 2,730 SNPs on human chromosome 22. Most of the SNPs are within 25 kilobases of a transcribed exon, and are valuable for association studies. We have scaled up the process, detecting over 65,000 SNPs in the genome as part of The SNP Consortium programme, which is on target to build a map of 1 SNP every 5 kilobases that is integrated with the human genome sequence and that is freely available in the public domain.
authors.affiliation: The Sanger Centre, Hinxton, Cambridge, UK.
authors.forename: J C
authors.initials: JC
authors.lastname: Mullikin
authors.forename: S E
authors.initials: SE
authors.lastname: Hunt
authors.forename: C G
authors.initials: CG
authors.lastname: Cole
authors.forename: B J
authors.initials: BJ
authors.lastname: Mortimore
authors.forename: C M
authors.initials: CM
authors.lastname: Rice
authors.forename: J
authors.initials: J
authors.lastname: Burton
authors.forename: L H
authors.initials: LH
authors.lastname: Matthews
authors.forename: R
authors.initials: R
authors.lastname: Pavitt
authors.forename: R W
authors.initials: RW
authors.lastname: Plumb
authors.forename: S K
authors.initials: SK
authors.lastname: Sims
authors.forename: R M
authors.initials: RM
authors.lastname: Ainscough
authors.forename: J
authors.initials: J
authors.lastname: Attwood
authors.forename: J M
authors.initials: JM
authors.lastname: Bailey
authors.forename: K
authors.initials: K
authors.lastname: Barlow
authors.forename: R M
authors.initials: RM
authors.lastname: Bruskiewich
authors.forename: P N
authors.initials: PN
authors.lastname: Butcher
authors.forename: N P
authors.initials: NP
authors.lastname: Carter
authors.forename: Y
authors.initials: Y
authors.lastname: Chen
authors.forename: C M
authors.initials: CM
authors.lastname: Clee
authors.forename: P C
authors.initials: PC
authors.lastname: Coggill
authors.forename: J
authors.initials: J
authors.lastname: Davies
authors.forename: R M
authors.initials: RM
authors.lastname: Davies
authors.forename: E
authors.initials: E
authors.lastname: Dawson
authors.forename: M D
authors.initials: MD
authors.lastname: Francis
authors.forename: A A
authors.initials: AA
authors.lastname: Joy
authors.forename: R G
authors.initials: RG
authors.lastname: Lamble
authors.forename: C F
authors.initials: CF
authors.lastname: Langford
authors.forename: J
authors.initials: J
authors.lastname: Macarthy
authors.forename: V
authors.initials: V
authors.lastname: Mall
authors.forename: A
authors.initials: A
authors.lastname: Moreland
authors.forename: E K
authors.initials: EK
authors.lastname: Overton-Larty
authors.forename: M T
authors.initials: MT
authors.lastname: Ross
authors.forename: L C
authors.initials: LC
authors.lastname: Smith
authors.forename: C A
authors.initials: CA
authors.lastname: Steward
authors.forename: J E
authors.initials: JE
authors.lastname: Sulston
authors.forename: E J
authors.initials: EJ
authors.lastname: Tinsley
authors.forename: K J
authors.initials: KJ
authors.lastname: Turney
authors.forename: D L
authors.initials: DL
authors.lastname: Willey
authors.forename: G D
authors.initials: GD
authors.lastname: Wilson
authors.forename: A A
authors.initials: AA
authors.lastname: McMurray
authors.forename: I
authors.initials: I
authors.lastname: Dunham
authors.forename: J
authors.initials: J
authors.lastname: Rogers
authors.forename: D R
authors.initials: DR
authors.lastname: Bentley
mesh_terms: D002460:Cell Line; D002874:Chromosome Mapping / Q000379:methods; D002892:Chromosomes, Human, Pair 22; D005069:Evaluation Studies as Topic; D015723:Gene Library; D015894:Genome, Human; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA / Q000379:methods*