| | |  | | | | Record from Web of Science® | |  |  | | |  |
| Quality and completeness of SNP databases |
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| 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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| |  |  |  |  | | | | Record from Web of Science® | |  |  | | | | | | |