GTR statistics

info info

Citations per year

info

Tool usage distribution map

info info

Associated diseases

info

Popular tool citations

chevron_left Pharmacogenetics databases chevron_right
Want to access the full stats & trends on this tool?

Protocols

GTR specifications

Information


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

Taxon


  • Primates
    • Homo sapiens

Documentation


Maintainer


  • person_outline Wendy S. Rubinstein

Additional information


https://www.ncbi.nlm.nih.gov/gtr/docs/help/

Publication for Genetic Testing Registry

GTR citations

 (3)
call_split

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

2018
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 […]

library_books

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

2017
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 […]

library_books

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

2017
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. ). […]


Want to access the full list of citations?
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.

GTR reviews

star_border star_border star_border star_border star_border
star star star star star

Be the first to review GTR