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

Quality and completeness of SNP databases

David E Reich  1 , Stacey B Gabriel, David Altshuler
Affiliations

Quality and completeness of SNP databases

David E Reich et al. Nat Genet. 2003 Apr.

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.

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