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Protocols

CGD specifications

Information


Unique identifier OMICS_09755
Name CGD
Alternative name Clinical Genomic Database
Restrictions to use None
Maintained Yes

Taxon


  • Primates
    • Homo sapiens

Maintainer


  • person_outline Benjamin D. Solomon

Publication for Clinical Genomic Database

library_books

Clinical Genomic Database

2013 Proc Natl Acad Sci U S A
PMCID: 3683745
PMID: 23696674
DOI: 10.1073/pnas.1302575110

CGD citations

 (3)
library_books

Genes Regulated by Vitamin D in Bone Cells Are Positively Selected in East Asians

2015
PLoS One
PMCID: 4697808
PMID: 26719974
DOI: 10.1371/journal.pone.0146072

[…] Inheritance in Man (OMIM http://omim.org), overlap with any variant trait associations with p-value 5.0 X 10–8 in the Genome Wide Association Studies catalogue (http://www.genome.gov/gwastudies) and Clinical Genomic Database (CGD), to understand the potential biological basis for selection. CGD is a manually curated database that includes ~2,700 genes causing human diseases culled from OMIM and t […]

library_books

Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck

2015
PLoS Genet
PMCID: 4552954
PMID: 26317225
DOI: 10.1371/journal.pgen.1005436

[…] MD and Hearing Loss, with a total of 60 genes in ESP (72 in 1KG) after removing overlap, referred to as “Combined”. To assemble a larger, though noisier gene set, we use all annotated AR genes in the Clinical Genomic Database, referred to as “CGD”, which contains 1268 genes in ESP and 1348 genes in 1KG []. […]

call_split

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

2015
PMCID: 4521965
PMID: 26247046
DOI: 10.1002/mgg3.142
call_split See protocol

[…] house annotation interface tool with information from numerous databases such as ClinVar (www.ncbi.nlm.nih.gov/clinvar/), Polyphen-2 (Adzhubei et al. ), FATHMM (Shihab et al. ), SIFT (Kumar et al. ), Clinical Genomic Database (Solomon et al. ), and The National Heart, Lung, and Blood Institute’s GO Exome Sequencing Project (ESP) (ESP ). Allele counts from ExAC (Exome_Aggregation_Consortium ) and C […]

Citations

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CGD institution(s)
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD, USA

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