4.8 Article

Quality and completeness of SNP databases

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NATURE GENETICS
卷 33, 期 4, 页码 457-458

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NATURE PUBLISHING GROUP
DOI: 10.1038/ng1133

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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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