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

scientific article

The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency is …
instance of (P31):
scholarly articleQ13442814

External links are
P8978DBLP publication IDjournals/nar/RubinsteinMLKMOHGSWHCKHJJKUDFHO13
P356DOI10.1093/NAR/GKS1173
P932PMC publication ID3531155
P698PubMed publication ID23193275
P5875ResearchGate publication ID233799057

P50authorDonna R. MaglottQ28406923
P2093author name stringMark Johnson
Douglas Hoffman
Kathy Hudson
Cathy Fomous
Wonhee Jang
Wendy S Rubinstein
Jennifer M Lee
Adriana J Malheiro
Brandi L Kattman
Mikhail Denisenko
Guangfeng Song
Craig Wallin
James M Ostell
Shanmuga Chitipiralla
Nora Husain
Kenneth S Katz
Michael Ovetsky
Vichet Hem
Alexander Ukrainchik
Fedor Karmanov
Viatcheslav Gorelenkov
P2860cites workEntrez Gene: gene-centered information at NCBIQ24610128
Pharmacogenomics knowledge for personalized medicineQ24623166
CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research NetworkQ24632735
The Universal Protein Resource (UniProt) in 2010Q28749229
McKusick's Online Mendelian Inheritance in Man (OMIM)Q29614446
NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policyQ29617901
Evaluation of the UMLS as a terminology and knowledge resource for biomedical informatics.Q30872628
Developing the blueprint for a genetic testing registryQ33697222
Registry of genetic tests: a critical stepping stone to improving the genetic testing systemQ33697325
GeneTests-GeneClinics: genetic testing information for a growing audienceQ34124896
genenames.org: the HGNC resources in 2011.Q34456662
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary diseaseQ34865360
Describing structural changes by extending HGVS sequence variation nomenclature.Q48653504
P275copyright licenseCreative Commons Attribution-NonCommercial 3.0 UnportedQ18810331
P6216copyright statuscopyrightedQ50423863
P433issueDatabase issue
P407language of work or nameEnglishQ1860
P921main subjectdatabaseQ8513
P304page(s)D925-35
P577publication date2012-11-27
P1433published inNucleic Acids ResearchQ135122
P1476titleThe NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency
P478volume41

Reverse relations

cites work (P2860)
Q22000581Achieving high-sensitivity for clinical applications using augmented exome sequencing
Q38966406Annotating Mutational Effects on Proteins and Protein Interactions: Designing Novel and Revisiting Existing Protocols
Q48503018Assessing the readiness of precision medicine interoperabilty: An exploratory study of the National Institutes of Health genetic testing registry.
Q90723279Biological Network Approaches and Applications in Rare Disease Studies
Q63738935Biomedical informatics and machine learning for clinical genomics
Q37661886ClinVar: public archive of relationships among sequence variation and human phenotype
Q38957119Clinical Versus Research Sequencing
Q90400055CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia
Q38671676Cost-effectiveness of pharmacogenetic-guided treatment: are we there yet?
Q38259526Current trend of annotating single nucleotide variation in humans--A case study on SNVrap
Q56337611Database resources of the National Center for Biotechnology Information
Q57444434Database resources of the National Center for Biotechnology Information
Q57444435Database resources of the National Center for Biotechnology Information
Q57573942De novo variants in neurodevelopmental disorders with epilepsy
Q90498359Debutant iOS app and gene-disease complexities in clinical genomics and precision medicine
Q64979534Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.
Q35852441EHR based Genetic Testing Knowledge Base (iGTKB) Development
Q49912348Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.
Q36121843FDA's Proposed Guidance for Laboratory Developed Tests: How Should Regulators Balance the Risks and Promise of Innovation in Clinical Genetics?
Q49841808From public health genomics to precision public health: a 20-year journey.
Q38644397Future of Rare Diseases Research 2017-2027: an IRDiRC Perspective
Q31172182GT2RDF: Semantic Representation of Genetic Testing Data
Q35253405Gene: a gene-centered information resource at NCBI.
Q30574645GeneSense: a new approach for human gene annotation integrated with protein-protein interaction networks
Q91910276Genepanel.iobio - an easy to use web tool for generating disease- and phenotype-associated gene lists
Q26866363Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics
Q57645246Genetics in mainstream medicine: Finally within grasp to influence healthcare globally
Q38114005Genomic medicine: a decade of successes, challenges, and opportunities
Q36359508Histoimmunogenetics Markup Language 1.0: Reporting next generation sequencing-based HLA and KIR genotyping
Q33838486Horizon scanning for translational genomic research beyond bench to bedside
Q61805552HuVarBase: A human variant database with comprehensive information at gene and protein levels
Q96166960Human gene and disease associations for clinical-genomics and precision medicine research
Q28552832Incidence of Exposure of Patients in the United States to Multiple Drugs for Which Pharmacogenomic Guidelines Are Available
Q38373635Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism
Q92738983Learning one's genetic risk changes physiology independent of actual genetic risk
Q28584456MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search
Q103016791MarkerDB: an online database of molecular biomarkers
Q57646393Measuring coverage and accuracy of whole-exome sequencing in clinical context
Q47155648Military genomics: a perspective on the successes and challenges of genomic medicine in the Armed Services
Q36359771Minimum information for reporting next generation sequence genotyping (MIRING): Guidelines for reporting HLA and KIR genotyping via next generation sequencing
Q90254699Operationalization of Next-Generation Sequencing and Decision Support for Precision Oncology
Q35812195Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.
Q36166107Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers
Q38839074Preface - Access to Knowledge Revisited
Q36398661Prioritizing genomic applications for action by level of evidence: a horizon-scanning method
Q35047930RefSeq: an update on mammalian reference sequences
Q38831782Regulating whole exome sequencing as a diagnostic test
Q55025416Somatic T-cell Receptor Diversity in a Chronic Kidney Disease PatientPopulation Linked to Electronic Health Records.
Q30888341Supporting interoperability of genetic data with LOINC.
Q30424320The 2013 Nucleic Acids Research Database Issue and the online molecular biology database collection
Q57455582The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria
Q27927007The Human Phenotype Ontology in 2017
Q26801867The pharmacogenetic control of antiplatelet response: candidate genes and CYP2C19
Q45945774Variant Interpretation: Functional Assays to the Rescue.
Q41443238wKGGSeq: A Comprehensive Strategy-Based and Disease-Targeted Online Framework to Facilitate Exome Sequencing Studies of Inherited Disorders

Search more.