SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes
| Autor: | Robert Welch, Mekhala Acharya, Laura Burdett, Hugues Sicotte, Bernice Packer, Stephen J. Chanock, Vinita Puri, Meredith Yeager, Brian Staats, Daniela S. Gerhard, Andrew Eckert, Michael Beerman, Andrew Crenshaw, Liqun Qi |
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| Rok vydání: | 2006 |
| Předmět: |
dbSNP
Genotype Sequence analysis Population Biology Polymerase Chain Reaction Polymorphism Single Nucleotide Article User-Computer Interface Gene Frequency Neoplasms Databases Genetic Genetics Humans Genetic Predisposition to Disease education Allele frequency Genotyping Cancer Genome Anatomy Project Internet education.field_of_study Reproducibility of Results Sequence Analysis DNA SNP genotyping Minor allele frequency Genes Neoplasm |
| Zdroj: | Nucleic Acids Research |
| ISSN: | 1362-4962 0305-1048 |
| DOI: | 10.1093/nar/gkj151 |
| Popis: | The SNP500Cancer database provides sequence and genotype assay information for candidate SNPs useful in mapping complex diseases, such as cancer. The database is an integral component of the NCI Cancer Genome Anatomy Project (http://cgap.nci.nih.gov). SNP500Cancer reports sequence analysis of anonymized control DNA samples (n = 102 Coriell samples representing four self-described ethnic groups: African/African-American, Caucasian, Hispanic and Pacific Rim). The website is searchable by gene, chromosome, gene ontology pathway, dbSNP ID and SNP500Cancer SNP ID. As of October 2005, the database contains >13 400 SNPs, 9124 of which have been sequenced in the SNP500Cancer population. For each analysed SNP, gene location and >200 bp of surrounding annotated sequence (including nearby SNPs) are provided, with frequency information in total and per subpopulation as well as calculation of Hardy-Weinberg equilibrium for each subpopulation. The website provides the conditions for validated sequencing and genotyping assays, as well as genotype results for the 102 samples, in both viewable and downloadable formats. A subset of sequence validated SNPs with minor allele frequency >5% are entered into a high-throughput pipeline for genotyping analysis to determine concordance for the same 102 samples. In addition, the results of genotype analysis for select validated SNP assays (defined as 100% concordance between sequence analysis and genotype results) are posted for an additional 280 samples drawn from the Human Diversity Panel (HDP). SNP500Cancer provides an invaluable resource for investigators to select SNPs for analysis, design genotyping assays using validated sequence data, choose selected assays already validated on one or more genotyping platforms, and select reference standards for genotyping assays. The SNP500Cancer database is freely accessible via the web page at http://snp500cancer.nci.nih.gov. |
| Databáze: | OpenAIRE |
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