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Quality and completeness of SNP databases
Author(s): Reich DE, Gabriel SB, Altshuler D
Source: NATURE GENETICS    Volume: 33    Issue: 4    Pages: 457-458    Published: APR 2003  
Times Cited: 105     References: 0     
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.
Document Type: Article
Language: English
Reprint Address: Reich, DE (reprint author), MIT, Program Med & Populat Genet, Whitehead Inst, Ctr Genome Res, 1 Kendall Sq, Cambridge, MA 02139 USA
Addresses:
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
Publisher: NATURE PUBLISHING GROUP, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 USA
Subject Category: Genetics & Heredity
IDS Number: 662CM
ISSN: 1061-4036
DOI: 10.1038/ng1133
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