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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| Published in | Nucleic acids research Vol. 41; no. D1; pp. D925 - D935 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Oxford University Press
01.01.2013
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0305-1048 1362-4962 1362-4962 |
| DOI | 10.1093/nar/gks1173 |
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| Abstract | 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). |
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| AbstractList | 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).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). 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 ). 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). |
| Author | Johnson, Mark Katz, Kenneth S. Ukrainchik, Alexander Fomous, Cathy Denisenko, Mikhail Hudson, Kathy Chitipiralla, Shanmuga Hem, Vichet Husain, Nora Lee, Jennifer M. Hoffman, Douglas Jang, Wonhee Ovetsky, Michael Ostell, James M. Malheiro, Adriana J. Maglott, Donna R. Song, Guangfeng Kattman, Brandi L. Gorelenkov, Viatcheslav Karmanov, Fedor Rubinstein, Wendy S. Wallin, Craig |
| AuthorAffiliation | 1 National Institutes of Health, National Library of Medicine, National Center for Biotechnology Information, 2 National Institutes of Health, Office of Biotechnology Activities and 3 National Institutes of Health, Office of the Director, Bethesda, MD 20894, USA |
| AuthorAffiliation_xml | – name: 1 National Institutes of Health, National Library of Medicine, National Center for Biotechnology Information, 2 National Institutes of Health, Office of Biotechnology Activities and 3 National Institutes of Health, Office of the Director, Bethesda, MD 20894, USA |
| Author_xml | – sequence: 1 givenname: Wendy S. surname: Rubinstein fullname: Rubinstein, Wendy S. – sequence: 2 givenname: Donna R. surname: Maglott fullname: Maglott, Donna R. – sequence: 3 givenname: Jennifer M. surname: Lee fullname: Lee, Jennifer M. – sequence: 4 givenname: Brandi L. surname: Kattman fullname: Kattman, Brandi L. – sequence: 5 givenname: Adriana J. surname: Malheiro fullname: Malheiro, Adriana J. – sequence: 6 givenname: Michael surname: Ovetsky fullname: Ovetsky, Michael – sequence: 7 givenname: Vichet surname: Hem fullname: Hem, Vichet – sequence: 8 givenname: Viatcheslav surname: Gorelenkov fullname: Gorelenkov, Viatcheslav – sequence: 9 givenname: Guangfeng surname: Song fullname: Song, Guangfeng – sequence: 10 givenname: Craig surname: Wallin fullname: Wallin, Craig – sequence: 11 givenname: Nora surname: Husain fullname: Husain, Nora – sequence: 12 givenname: Shanmuga surname: Chitipiralla fullname: Chitipiralla, Shanmuga – sequence: 13 givenname: Kenneth S. surname: Katz fullname: Katz, Kenneth S. – sequence: 14 givenname: Douglas surname: Hoffman fullname: Hoffman, Douglas – sequence: 15 givenname: Wonhee surname: Jang fullname: Jang, Wonhee – sequence: 16 givenname: Mark surname: Johnson fullname: Johnson, Mark – sequence: 17 givenname: Fedor surname: Karmanov fullname: Karmanov, Fedor – sequence: 18 givenname: Alexander surname: Ukrainchik fullname: Ukrainchik, Alexander – sequence: 19 givenname: Mikhail surname: Denisenko fullname: Denisenko, Mikhail – sequence: 20 givenname: Cathy surname: Fomous fullname: Fomous, Cathy – sequence: 21 givenname: Kathy surname: Hudson fullname: Hudson, Kathy – sequence: 22 givenname: James M. surname: Ostell fullname: Ostell, James M. |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/23193275$$D View this record in MEDLINE/PubMed |
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| 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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