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ClinGen specifications


Unique identifier OMICS_09756
Name ClinGen
Alternative name Clinical Genome Resource
Restrictions to use None
Maintained Yes


  • Primates
    • Homo sapiens


  • person_outline ClinGen

Publications for Clinical Genome Resource

ClinGen citations


Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X linked agammaglobulinemia

PMCID: 5590079
PMID: 28928935
DOI: 10.5256/f1000research.10201.r17566

[…] s in mother. The identified mutation c.1325dupT has not yet been reported in the BTKbase and absent in ExAC, 1000genome as well as internal control databases from South Asia and Middle East (, which confirms the novelty of the variation. The mutation evaluation by SIFT Indel tool (, ) was predicted to be damagi […]


The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges

PMCID: 4959014
PMID: 27504451
DOI: 10.3389/fcvm.2016.00022

[…] enomic Arrays Consortium was among the first large-scale genotype–phenotype initiatives to adopt the HPO system and demonstrate effectiveness (). This consortium subsequently became the basis for the Clinical Genome Resource (ClinGen), sponsored by the National Institutes of Health. ClinGen aims to facilitate and establish standards for large collaborative efforts to make genotype–phenotype discov […]


Integrated small copy number variations and epigenome maps of disorders of sex development

Hum Genome Var
PMCID: 4899613
PMID: 27340555
DOI: 10.1038/hgv.2016.12

[…] edu/cgi-bin/hgGateway): RefSeq genes; common CNV data (inclusive and stringent data) by Zarrei et al., obtained from DGV (database of genomic variants;; the ClinGen database, which curates benign, uncertain clinical significance likely benign (UCS LB), UCS likely pathogenic (LP), UCS and curated pathogenic genes; DECIPHER (; […]


Challenges of Identifying Clinically Actionable Genetic Variants for Precision Medicine

PMCID: 4955563
PMID: 27195526
DOI: 10.1155/2016/3617572

[…] ed the incorporation of genomic data into clinical care, the workshop advocated for a dynamic, centralized database that can be updated with available, reliable evidence on variant pathogenicity. The Clinical Genome Resource (ClinGen) program [], developed in response to this recommendation, provides resources (e.g., ClinVar []) to aid the understanding of genetic variation and the use of genetic […]


The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

PLoS Genet
PMCID: 4557908
PMID: 26332131
DOI: 10.1371/journal.pgen.1005492

[…] this work, the two scores are only weakly correlated (r 2 = 0.06, ) and ncRVIS can add information beyond ncGERP. This is evidenced by the various dosage sensitive gene list assessments including the ClinGen assessment where in a joint logistic regression model of just ncRVIS and ncGERP, ncRVIS had a significant contribution (p = 7.2x10-7). This likely occurs, at least in part, for the interesting […]


A conceptual model for translating omic data into clinical action

J Pathol Inform
PMCID: 4584438
PMID: 26430534
DOI: 10.4103/2153-3539.163985

[…] lows on a limited basis.[] In the future, CDS will be a powerful tool when it is driven by both local clinical data and easily accessible knowledge from databases like those being created by CPIC and ClinGen.When achieved, such carefully designed CDS presented at the time of clinical action is the critical component that will reduce the cognitive overload clinicians would otherwise experience when […]


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ClinGen institution(s)
Harvard Medical School and Brigham and Women's Hospital and Partners HealthCare, MA, USA
ClinGen funding source(s)
ClinGen is funded by the National Human Genome Research Institute, with additional funding from the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Cancer Institute (U41 HG006834, U01 HG007436, U01 HG007437, HHSN261200800001E).

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