Quality and completeness of SNP databases

Nat Genet. 2003 Apr;33(4):457-8. doi: 10.1038/ng1133. Epub 2003 Mar 24.


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.

MeSH terms

  • Alleles
  • Chromosome Mapping
  • Databases as Topic*
  • Genetic Variation
  • Genome, Human
  • Haplotypes
  • Heterozygote
  • Humans
  • Polymorphism, Single Nucleotide*
  • Sequence Analysis, DNA*