The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency
| Autor: | Michael Ovetsky, Brandi L. Kattman, Kathy L. Hudson, Malheiro Aj, Viatcheslav Gorelenkov, Guangfeng Song, Wonhee Jang, Kenneth S. Katz, Mikhail Denisenko, Wendy S. Rubinstein, Craig Wallin, Mark D. Johnson, Fedor Karmanov, Shanmuga Chitipiralla, Nora Husain, James Ostell, Douglas W. Hoffman, Jennifer M. Lee, Vichet Hem, Alexander Ukrainchik, Donna Maglott, Cathy Fomous |
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| Rok vydání: | 2012 |
| Předmět: |
Internet
File Transfer Protocol medicine.diagnostic_test business.industry MEDLINE Genetic Variation Articles Certification Biology Test (assessment) World Wide Web Identifier Centralized database Phenotype Genes Databases Genetic Genetics medicine Humans The Internet Genetic Testing Registries business Genetic testing |
| Zdroj: | Nucleic Acids Research |
| ISSN: | 1362-4962 0305-1048 0000-0000 |
| DOI: | 10.1093/nar/gks1173 |
| Popis: | The National Institutes of Health Genetic Testing Registry (GTR; available online at http://www.ncbi.nlm.nih.gov/gtr/) maintains comprehensive information about testing offered worldwide for disorders with a genetic basis. Information is voluntarily submitted by test providers. The database provides details of each test (e.g. its purpose, target populations, methods, what it measures, analytical validity, clinical validity, clinical utility, ordering information) and laboratory (e.g. location, contact information, certifications and licenses). Each test is assigned a stable identifier of the format GTR000000000, which is versioned when the submitter updates information. Data submitted by test providers are integrated with basic information maintained in National Center for Biotechnology Information's databases and presented on the web and through FTP (ftp.ncbi.nih.gov/pub/GTR/_README.html). |
| Databáze: | OpenAIRE |
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