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

Quality and completeness of SNP databases.

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  • 1Program in Medical and Population Genetics, Whitehead Institute / MIT Center for Genome Research, One Kendall Square, Cambridge, Massachusetts 02139, USA.


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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