Quality and completeness of SNP databases

被引:139
作者
Reich, DE
Gabriel, SB
Altshuler, D
机构
[1] MIT, Program Med & Populat Genet, Whitehead Inst, Ctr Genome Res, Cambridge, MA 02139 USA
[2] Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA
[3] Massachusetts Gen Hosp, Diabet Unit, Boston, MA 02114 USA
[4] Harvard Univ, Sch Med, Dept Genet, Boston, MA USA
[5] Harvard Univ, Sch Med, Dept Med, Boston, MA USA
关键词
D O I
10.1038/ng1133
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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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页码:457 / 458
页数:2
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