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

来源：

NATURE GENETICS | 2003年 / 33卷 / 04期

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.

引用

页码：457 / 458

页数：2

共 13 条

[1]

Sachidanandam R., Et al., Nature, 409, pp. 928-933, (2001)

[2]

Venter J.C., Et al., Science, 291, pp. 1304-1351, (2001)

[3]

Marth G., Et al., Nat. Genet., 27, pp. 371-372, (2001)

[4]

Reich D.E., Et al., Nature, 411, pp. 199-204, (2001)

[5]

Nickerson D.B., Tobe V.O., Taylor S.L., Nucleic Acids Res., 25, pp. 2745-2751, (1997)

[6]

Gabriel S.B., Et al., Science, 296, pp. 2225-2229, (2002)

[7]

Carlson C.S., Et al., Nat. Genet, 33, (2003)

[8]

Kruglyak L., Nickerson D.A., Nat. Genet., 27, pp. 234-236, (2000)

[9]

Lewontin R.C., Evol. Biol., 6, pp. 381-398, (1972)

[10]

Rosenberg N.A., Et al., Science, 298, pp. 2381-2385, (2002)

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