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GTR specifications


Unique identifier OMICS_01541
Name GTR
Alternative name Genetic Testing Registry
Restrictions to use None
Community driven No
Data access File download, Browse
User data submission Allowed
Maintained Yes


  • Primates
    • Homo sapiens



  • person_outline Wendy S. Rubinstein

Additional information

Publication for Genetic Testing Registry

GTR citations


Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases

BMC Med Genet
PMCID: 5889585
PMID: 29625556
DOI: 10.1186/s12881-018-0568-y
call_split See protocol

[…] We designed a custom panel of genomic regions corresponding to 281 genes, selected in 2016 to be already involved in mitochondrial disorders (NIH Genetic Testing Registry) or to be candidate genes (Additional file : Table S1). We designed RNA probes to capture the transcribed sequences of genes (exons and exon/intron junctions) with Agilent Sur […]


Knowledge base and mini expert platform for the diagnosis of inborn errors of metabolism

Genet Med
PMCID: 5763153
PMID: 28726811
DOI: 10.1038/gim.2017.108

[…] resources., , , The last was a list of links to relevant entries in external databases, such as UniProt, NCBI Gene, GeneCards, Kyoto Encyclopedia of Genes and Genomes, National Institutes of Health Genetic Testing Registry, and GeneReviews. The links were created for interoperability with existing systems and were created using a BioMart ID conversion tool, as well as URL rules specified on the […]


Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias

PMCID: 5441426
PMID: 28546998
DOI: 10.1002/mgg3.285

[…] nd genotype quality ≥35), rare (1000 Genomes Project minor allele frequency ≤0.01 and Exome Aggregation Consortium ≤0.01), homozygous, pathogenic variants within known disease genes gathered from the Genetic Testing Registry and Online Mendelian Inheritance in Man (see interrogated genes in Table ) (Genomes Project C et al. ; Lek et al. ). […]


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GTR institution(s)
National Institutes of Health, National Library of Medicine, National Center for Biotechnology Information, Bethesda, MD, USA; National Institutes of Health, Office of Biotechnology Activities, Bethesda, MD, USA; National Institutes of Health, Office of the Director, Bethesda, MD, USA
GTR funding source(s)
Supported Intramural Research Program of the NIH, National Library of Medicine and the NIH Office of the Director.

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