Large-scale characterization of public database SNPs causing non-synonymous changes in three ethnic groups
| Autor: | Malek Faham, Victoria Carlton, Ayca Erbilgin, Paul Hardenbol, Ron Fitzgerald, Francisco Useche, Karen Tran, Martin Moorhead, James S. Ireland, Matthew Falkowski, Thomas D. Willis |
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| Rok vydání: | 2005 |
| Předmět: |
Primates
Genetics Ethnic group Black People Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide White People Human genetics SNP genotyping Genetics Population Asian People Gene Frequency Databases Genetic Animals Humans Selection Genetic International HapMap Project Allele frequency Gene Genetics (clinical) Selection (genetic algorithm) |
| Zdroj: | Human Genetics. 119:75-83 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/s00439-005-0105-x |
| Popis: | Single nucleotide polymorphisms (SNPs) that lead to non-synonymous changes in proteins may have functional effects and be subject to selection. Hence they are of particular interest in the study of genetic diseases. We have genotyped approximately 28,000 such SNPs in three ethnic populations (the HapMap plates) and ten primate species and analyzed these data for evidence of selection. We find SNPs predicted by PolyPhen to be damaging, have lower allele frequencies, and are particularly likely to be population-specific. We have also grouped SNPs by molecular function or biological process of the associated genes and find evidence that selection may be acting in concert on classes of genes. |
| Databáze: | OpenAIRE |
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