The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency

被引：126

作者：

Rubinstein, Wendy S. ^{[1
]}

Maglott, Donna R. ^{[1
]}

Lee, Jennifer M. ^{[1
]}

Kattman, Brandi L. ^{[1
]}

Malheiro, Adriana J. ^{[1
]}

Ovetsky, Michael ^{[1
]}

Hem, Vichet ^{[1
]}

Gorelenkov, Viatcheslav ^{[1
]}

Song, Guangfeng ^{[1
]}

Wallin, Craig ^{[1
]}

Husain, Nora ^{[1
]}

Chitipiralla, Shanmuga ^{[1
]}

Katz, Kenneth S. ^{[1
]}

Hoffman, Douglas ^{[1
]}

Jang, Wonhee ^{[1
]}

Johnson, Mark ^{[1
]}

Karmanov, Fedor ^{[1
]}

Ukrainchik, Alexander ^{[1
]}

Denisenko, Mikhail ^{[1
]}

Fomous, Cathy ^{[2
]}

Hudson, Kathy ^{[3
]}

Ostell, James M. ^{[1
]}

机构：

[1] NIH, Natl Lib Med, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA

[2] NIH, Off Biotechnol Act, Bethesda, MD 20894 USA

[3] NIH, Off Director, Bethesda, MD 20894 USA

来源：

NUCLEIC ACIDS RESEARCH | 2013年 / 41卷 / D1期

关键词：

D O I：

10.1093/nar/gks1173

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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).

引用

页码：D925 / D935

页数：11

共 13 条

[1] McKusick's Online Mendelian Inheritance in Man (OMIM®) [J].

Amberger, Joanna ;

Bocchini, Carol A. ;

Scott, Alan F. ;

Hamosh, Ada .

NUCLEIC ACIDS RESEARCH, 2009, 37 :D793-D796

[2] The Universal Protein Resource (UniProt) in 2010 [J].

Apweiler, Rolf ;

Martin, Maria Jesus ;

O'Donovan, Claire ;

Magrane, Michele ;

Alam-Faruque, Yasmin ;

Antunes, Ricardo ;

Barrell, Daniel ;

Bely, Benoit ;

Bingley, Mark ;

Binns, David ;

Bower, Lawrence ;

Browne, Paul ;

Chan, Wei Mun ;

Dimmer, Emily ;

Eberhardt, Ruth ;

Fedotov, Alexander ;

Foulger, Rebecca ;

Garavelli, John ;

Huntley, Rachael ;

Jacobsen, Julius ;

Kleen, Michael ;

Laiho, Kati ;

Leinonen, Rasko ;

Legge, Duncan ;

Lin, Quan ;

Liu, Wudong ;

Luo, Jie ;

Orchard, Sandra ;

Patient, Samuel ;

Poggioli, Diego ;

Pruess, Manuela ;

Corbett, Matt ;

di Martino, Giuseppe ;

Donnelly, Mike ;

van Rensburg, Pieter ;

Bairoch, Amos ;

Bougueleret, Lydie ;

Xenarios, Ioannis ;

Altairac, Severine ;

Auchincloss, Andrea ;

Argoud-Puy, Ghislaine ;

Axelsen, Kristian ;

Baratin, Delphine ;

Blatter, Marie-Claude ;

Boeckmann, Brigitte ;

Bolleman, Jerven ;

Bollondi, Laurent ;

Boutet, Emmanuel ;

Quintaje, Silvia Braconi ;

Breuza, Lionel .

NUCLEIC ACIDS RESEARCH, 2010, 38 :D142-D148

[3]

Bodenreider O, 2002, AMIA 2002 SYMPOSIUM, PROCEEDINGS, P61

[4] Developing the Blueprint for a Genetic Testing Registry [J].

Javitt, G. ;

Katsanis, S. ;

Scott, J. ;

Hudson, K. .

PUBLIC HEALTH GENOMICS, 2010, 13 (02) :95-105

[5] Entrez Gene: gene-centered information at NCBI [J].

Maglott, Donna ;

Ostell, Jim ;

Pruitt, Kim D. ;

Tatusova, Tatiana .

NUCLEIC ACIDS RESEARCH, 2011, 39 :D52-D57

[6] GeneTests-GeneClinics: Genetic testing information for a growing audience [J].

Pagon, RA ;

Tarczy-Hornoch, P ;

Baskin, PK ;

Edwards, JE ;

Covington, ML ;

Espeseth, M ;

Beahler, C ;

Bird, TD ;

Popovich, B ;

Nesbitt, C ;

Dolan, C ;

Marymee, K ;

Hanson, NB ;

Neufeld-Kaiser, W ;

Grohs, GM ;

Kicklighter, T ;

Abair, C ;

Malmin, A ;

Barclay, M ;

Palepu, RD .

HUMAN MUTATION, 2002, 19 (05) :501-509

[7] NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy [J].

Pruitt, Kim D. ;

Tatusova, Tatiana ;

Brown, Garth R. ;

Maglott, Donna R. .

NUCLEIC ACIDS RESEARCH, 2012, 40 (D1) :D130-D135

[8] CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network [J].

Relling, M. V. ;

Klein, T. E. .

CLINICAL PHARMACOLOGY & THERAPEUTICS, 2011, 89 (03) :464-467

[9] The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease [J].

Robinson, Peter N. ;

Koehler, Sebastian ;

Bauer, Sebastian ;

Seelow, Dominik ;

Horn, Denise ;

Mundlos, Stefan .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 83 (05) :610-615

[10] genenames.org: the HGNC resources in 2011 [J].

Seal, Ruth L. ;

Gordon, Susan M. ;

Lush, Michael J. ;

Wright, Mathew W. ;

Bruford, Elspeth A. .

NUCLEIC ACIDS RESEARCH, 2011, 39 :D514-D519

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