title: Quality and completeness of SNP databases.
abstract: To address the quality and completeness of single-nucleotide polymorphism (SNP) databases, we resequenced 173 kb (spanning 17 loci) in 150 chromosomes of west African and European ancestry. Over 88% of SNPs in the public (TSC and BAC overlap) and Celera databases were confirmed in independent resequencing. Approximately 45% of all human heterozygosity is attributable to SNPs already available from the two databases, and of SNPs with minor-allele frequencies >10%, more than half are represented.
authors.affiliation: Program in Medical and Population Genetics, Whitehead Institute / MIT Center for Genome Research, One Kendall Square, Cambridge, Massachusetts 02139, USA. reich@genome.wi.mit.edu
authors.forename: David E
authors.initials: DE
authors.lastname: Reich
authors.forename: Stacey B
authors.initials: SB
authors.lastname: Gabriel
authors.forename: David
authors.initials: D
authors.lastname: Altshuler
mesh_terms: D000483:Alleles; D002874:Chromosome Mapping; D019992:Databases as Topic; D014644:Genetic Variation; D015894:Genome, Human; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA