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GHR specifications


Unique identifier OMICS_30974
Name GHR
Alternative name Genetics Home Reference
Restrictions to use None
Community driven No
Data access File download, Browse, Application programming interface
User data submission Not allowed
Registration required No
Maintained Yes
Availability Yes

Additional information

Publication for Genetics Home Reference

GHR citations


Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next generation Sequencing

Sci Rep
PMCID: 5577253
PMID: 28855619
DOI: 10.1038/s41598-017-09785-y
call_split See protocol

[…] ure array (NimbleGen, Roche, Madison, WI, USA), which was designed mainly to capture the CDS of 2,181 known pathogenic genes associated with 561 Mendelian diseases based on the GeneReviews (NCBI) and Genetics Home Reference. Genomic DNA from peripheral blood or abortion tissues were fragmented into lengths ranging from 200 bp to 250 bp. The primers, adapters and indexes were then ligated to the DN […]


Downregulation of ABC Transporters in Non neoplastic Tissues Confers Better Prognosis for Pancreatic and Colorectal Cancer Patients

PMCID: 5559956
PMID: 28819395
DOI: 10.7150/jca.19364

[…] multiple searches in several publicly available databases - NCBI Gene, The Weizmann Institute of Science GeneCards, UniProtKB/Swiss-Prot, UCSC Genome Browser, Kyoto Encyclopedia of Genes and Genomes, Genetics Home Reference, and Reactome. […]


Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity

Hum Mol Genet
PMCID: 5390676
PMID: 28369266
DOI: 10.1093/hmg/ddx014

[…] KS comorbidities we created a mapping between the Disease Ontology Database () and ICD-10 codes, and then used the associations between diseases and proteins extracted from the Diseases database (), Genetics home reference (), OMIM () and the UniProt Knowledgebase (). Disease sub-networks were built for KS and all extracted comorbidities with associated proteins connected with observed physical P […]


Locus heterogeneity disease genes encode proteins with high interconnectivity in the human protein interaction network

Front Genet
PMCID: 4260505
PMID: 25538735
DOI: 10.3389/fgene.2014.00434

[…] ta relating to heterogeneous and Mendelian disorders were obtained from a combination of ResNet (10/02/2014 update; ), a database providing genetic data relating to a number of retinal disorders, and Genetics Home Reference (GHR; ), a resource of integrated clinical information that curates disorder specific research to provide information for patients. The selection of both heterogeneous and Mend […]


Effect of sexual maturation on muscle gene expression of rainbow trout: RNA Seq approach

PMCID: 3841051
PMID: 24303187
DOI: 10.1002/phy2.120

[…] rPro ), was up-regulated. (3) A transcript encoding an aminoacylase (acy) that is involved in hydrolysis of N-acylated or N-acetylated amino acids to amino acids and an acyl group was down-regulated (Genetics Home Reference ).The alanine, aspartate and, glutamate metabolism pathway had two differentially expressed transcripts. These transcripts were: (1) a down-regulated transcript encoding carbam […]


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GHR institution(s)
National Library of Medicinea, University of Missouri, MO, USA

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