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Protocols

GeneTests specifications

Information


Unique identifier OMICS_04232
Name GeneTests
Restrictions to use None
Maintained No

Taxon


  • Primates
    • Homo sapiens

Maintainer


This tool is not available anymore.

Publications for GeneTests

GeneTests citations

 (5)
library_books

Human genome meeting 2016

2016
Hum Genomics
PMCID: 4896275
PMID: 27294413
DOI: 10.1186/s40246-016-0063-5

[…] loyed for hybridization, has yielded 7.7Gb of data per exome providing a coverage of 96% at 20X or greater. The Spike-in PKv2 reagent is comprised of 3,643 additional unique gene targets derived from GeneTests, OMIM, selected cancer genes and Baylor Miraca Genetics Laboratory positive cases. The addition of this reagent converts >700-800 genes from partially covered to fully covered at ≥ 20X cover […]

call_split

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies

2016
Biomed Res Int
PMCID: 4875968
PMID: 27243033
DOI: 10.1155/2016/6421039
call_split See protocol

[…] ed by the ordering physician, pedigree analysis, and genes known to cause epilepsy using OMIM (http://www.ncbi.nlm.nih.gov/omim), PubMed (http://www.ncbi.nlm.nih.gov/pubmed), GeneReviews (https://www.genetests.org/resources/genereviews.php), and PhenoTips (http://phenotips.org/). The IIHG diagnostic lab routinely reports candidate gene regions with sequencing coverage less than 10x to the ordering […]

library_books

GeneSense: a new approach for human gene annotation integrated with protein protein interaction networks

2014
Sci Rep
PMCID: 3966033
PMID: 24667292
DOI: 10.1038/srep04474

[…] between species and homologs information that helps to elucidate how the gene is related to other genes in a family, such as that demonstrated in TreeFam, MGI, RGD, and HCOP. Others databases such as GeneTests, UCSC, CiteXplore (www.ebi.ac.uk/citexplore), GeneCards and pathway information are also linked to GeneSense. Gene information is based on gene definitions from HGNC and related links via bo […]

library_books

Genome Wide Analysis of Functional and Evolutionary Features of Tele Enhancers

2014
PMCID: 4059231
PMID: 24496725
DOI: 10.1534/g3.114.010447

[…] lopment GO category () [P = 2 × 10−11, using DAVID ()], (2) in the neighborhood of p300 heart enhancers (hypergeometric distribution P = 4 × 10−34), and (3) in the heart disease genes reported by the GeneTests database (http://www.ncbi.nlm.nih.gov/gtr/; P = 4 × 10−13, Figure S1, and File S1), suggesting a significant association between these highly expressed genes and human heart development (see […]

library_books

Next generation DNA sequencing of HEXA: a step in the right direction for carrier screening

2013
PMCID: 3865593
PMID: 24498621
DOI: 10.1002/mgg3.37

[…] half (33/61) of identified TSD alleles (Table ). Three additional common pathogenic or pseudodeficiency variants that are part of most mutation panels used in targeted mutation analysis (according to GeneTests) were detected in another 10 alleles. In addition, 10 variants, one of them novel, represented the remaining 29% (18/61) alleles.The missense mutation p.Arg504Cys was found in two carriers a […]

Citations

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GeneTests institution(s)
University of Washington, Seattle, WA, USA; Children’s Hospital and Regional Medical Center, Seattle, WA, USA; Veterans Administration Medical Center, Seattle, WA, USA; Xenon Genetics Inc., Vancouver, BC, Canada; Inland Northwest Genetics Clinic, Spokane, WA, USA; Eastside Maternal-Fetal Medicine, Bellevue, WA, USA

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