The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency
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...
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| Veröffentlicht in: | Nucleic acids research 2013-01, Vol.41 (Database issue), p.D925-D935 |
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| creator | Rubinstein, Wendy S Maglott, Donna R Lee, Jennifer M Kattman, Brandi L Malheiro, Adriana J Ovetsky, Michael Hem, Vichet Gorelenkov, Viatcheslav Song, Guangfeng Wallin, Craig Husain, Nora Chitipiralla, Shanmuga Katz, Kenneth S Hoffman, Douglas Jang, Wonhee Johnson, Mark Karmanov, Fedor Ukrainchik, Alexander Denisenko, Mikhail Fomous, Cathy Hudson, Kathy Ostell, James M |
| description | 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). |
| doi_str_mv | 10.1093/nar/gks1173 |
| format | Article |
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| identifier | ISSN: 0305-1048 |
| ispartof | Nucleic acids research, 2013-01, Vol.41 (Database issue), p.D925-D935 |
| issn | 0305-1048 1362-4962 |
| language | eng |
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| source | MEDLINE; DOAJ Directory of Open Access Journals; Access via Oxford University Press (Open Access Collection); PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | Databases, Genetic Genes Genetic Testing Genetic Variation Humans Internet Phenotype Registries |
| title | The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency |
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