The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships is a dataset published in Genetics in Medicine Open (2025). On theSindex it has a DataRank of 0, placing it in the top 100% of the data-sharing corpus. Its calibrated FAIR score is 42/100.
Ranks in the top 100% for downstream scientific impact
DataRank reads this dataset's downstream impact straight off the citation graph — no black box, no proprietary weighting. How is this computed?
FAIR checklist signals are shown for context only and do not affect DataRank scoring.
Full FAIR picture · advisory
The headline score is computed from the scored criteria — the fact-shaped checks (a repository, an accession, a licence) that two independent models agree on. The advisory criteria below are real FAIR guidance but rest on judgment calls that models read differently, so they inform without moving the number.
“https://search.clinicalgenome.org/kb/gene-validity/”
The only identifier for the dataset is a URL, not a persistent identifier scheme.
RDA-F1-01D — FAIR Data Maturity Model: 'Data is identified by a persistent identifier' (priorit · RDA-F1-02D — FAIR Data Maturity Model: 'Data is identified by a globally unique identifier' · FsF-F1-02D — F-UJI/FAIRsFAIR: 'Data is assigned a persistent identifier'
“Clinical Genome Resource website”
The named host is a consortium website, not a curated data repository like GEO. [majority verdict 'partial' (4/5 passes agreed)]
RDA-F4-01M — FAIR Data Maturity Model: metadata is offered so it can be harvested and indexed ( · NIH DMS Policy Element 4 (NOT-OD-21-014) — name the repository where data will be archived · NSTC Desirable Characteristics of Data Repositories (2022) — 'Long-Term Sustainability', 'Reten
“The Clinical Genome Resource Syndromic Disorders Gene Curation Expert Panel makes all curations publicly available on the Clinical Genome Resource website ( https://search.clinicalgenome.org/kb/gene-validity/ ).”
The dataset identifier appears only in the body text, not as a reference-list entry.
FORCE11 Joint Declaration of Data Citation Principles (2014) — data should be cited as a first- · RDA-F3-01M — metadata clearly and explicitly includes the identifier of the data it describes · FsF-F3-01M — F-UJI: 'Metadata includes the identifier of the data it describes'
Advisory · not in the published score
“The data used in this publication are available in the Supplemental File and the online version of this article. The Clinical Genome Resource Syndromic Disorders Gene Curation Expert Panel makes all curations publicly available on the Clinical Genome Resource website ( https://search.clinicalgenome.org/kb/gene-validity/ ).”
The statement points to a repository record (ClinGen website) with a persistent link.
Colavizza, Hrynaszkiewicz, Staden, Whitaker & McGillivray (2020), 'The citation advantage of li · Springer Nature research data policy — Data Availability Statements: standard statement templat · RDA-F3-01M — metadata clearly and explicitly includes the identifier of the data it describes
“78 GDRs were classified as Definitive, 9 as Strong, 15 as Moderate, and 9 as Limited”
The dataset's content is described in running prose, not an itemised inventory. [majority verdict 'partial' (3/5 passes agreed)]
RDA-F2-01M — 'Rich metadata is provided to allow discovery' (priority Essential) · FsF-F2-01M — F-UJI: 'Metadata includes descriptive core elements to support data findability' · FsF-R1-01MD — F-UJI: 'Metadata specifies the content of the data'
“makes all curations publicly available on the Clinical Genome Resource website”
The text states the data are publicly available with no precondition.
RDA-A1.1-01D — 'Data is accessible through a free access protocol' · FsF-A1-01M — F-UJI: 'Metadata contains access level and access conditions of the data' · NSTC Desirable Characteristics of Data Repositories (2022) — 'Free and Easy Access'
Advisory · not in the published score
“makes all curations publicly available on the Clinical Genome Resource website”
The paper uses the phrase 'publicly available' which is a natural-language synonym for open access.
FsF-A1-01M — F-UJI: 'Metadata contains access level and access conditions of the data' · RDA-A1-01M — metadata contains information to enable the user to get access to the data · COAR Controlled Vocabularies — Access Rights v1.0 (open / embargoed / restricted / metadata-onl
The data are not sensitive, and no gatekeeper is named.
NIH Genomic Data Sharing Policy (NOT-OD-14-124) — controlled-access via a Data Access Committee · RDA-A1.2-01D — 'Data is accessible through an access protocol that supports authentication and · NIH DMS Policy Element 5 (NOT-OD-21-014) — Access, Distribution, or Reuse Considerations (conse
“makes all curations publicly available on the Clinical Genome Resource website”
The paper states the data are available now but does not specify how long they will persist. [majority verdict 'partial' (4/5 passes agreed)]
NIH DMS Plan Element 4 (NOT-OD-21-014) — Data Preservation, Access, and Associated Timelines · NSTC Desirable Characteristics (2022), Organizational Infrastructure: 'Retention Policy' · RDA-A2-01M — 'Metadata is guaranteed to remain available after data is no longer available'
No file format is named for the released data.
FsF-R1.3-02D — F-UJI: 'Data is available in a file format recommended by the target research co · RDA-R1.3-02D — data is expressed in a machine-understandable community standard · RDA-I1-01D — data uses a knowledge representation expressed in a standardised format
Advisory · not in the published score
“Human Phenotype Ontology (HPO)”
The paper applies the HPO, a community-standard ontology, to describe phenotypes.
RDA-R1.3-01M — 'Metadata complies with a community standard' (priority Essential) · RDA-R1.3-01D — 'Data complies with a community standard' · RDA-I2-01M — '(Meta)data use vocabularies that follow FAIR principles'
No identifier for an external resource (e.g., accession, DOI) is given for data the study depends on. [majority verdict 'no' (4/5 passes agreed)]
RDA-I3-01M — '(meta)data include references to other (meta)data' · RDA-I3-03M — 'metadata includes qualified references to other metadata' · FsF-I3-01M — F-UJI: 'Metadata includes links between the data and its related entities'
No license is stated for the data; the CC BY license applies to the article only.
RDA-R1.1-01M — 'Metadata includes information about the licence under which the data can be reu · RDA-R1.1-02M — 'Metadata refers to a standard reuse licence' · RDA-R1.1-03M — 'Metadata refers to a machine-understandable reuse licence'
No version token or date pins the dataset snapshot. [majority verdict 'no' (3/5 passes agreed)]
DataCite Metadata Schema 4.6 — the 'Version' property · RDA-R1.2-01M — provenance information (which version was used is provenance) · NSTC Desirable Characteristics of Data Repositories (2022) — 'Provenance', 'Retention Policy'
Code availability is not addressed.
NIH DMS Policy Element 2 (NOT-OD-21-014) — 'Related Tools, Software and/or Code' · FAIR4RS Principles v1.0 (Chue Hong et al., 2022; RDA/FORCE11/ReSA) — FAIR Principles for Resear · FORCE11 Software Citation Principles (Smith, Katz & Niemeyer, 2016, PeerJ CS 2:e86)
“U24HD104591”
An award number is given for the funding.
DataCite Metadata Schema 4.6 — 'FundingReference' property (funderName, funderIdentifier, award · Crossref Funder Registry — canonical funder identifiers for funding metadata · RDA-F2-01M — rich metadata provided to allow discovery (funding is part of the descriptive reco
Advisory · not in the published score
“curation is performed by SD-GCEP curators using ClinGen's Gene Curation Interface”
The paper names a specific software tool used to produce the data.
RDA-R1.2-01M — 'Metadata includes provenance information according to community- specific standa · FsF-R1.2-01M — F-UJI: 'Metadata includes provenance information about data creation or generati · W3C PROV-O (W3C Recommendation, 2013) — the entity/activity/agent model of provenance
“Supplemental Table 2”
Variable definitions live inside the article (Supplemental Table 2), not shipped with the data. [majority verdict 'partial' (4/5 passes agreed)]
RDA-R1-01M — '(Meta)data are richly described with a plurality of accurate and relevant attribu · FsF-R1-01MD — F-UJI: 'Metadata specifies the content of the data' · NIH DMS Policy Element 3 (NOT-OD-21-014) — Standards (documentation and metadata to accompany t
Calibrated FAIR score — a parallel quality metric, independent of the DataRank citation score. See the full evaluation →
National Medical Research Council
Grant: NMRC/CSAINV24jul-0001
NHGRI NIH HHS
Grant: RM1 HG010860
National Human Genome Research Institute
Grant: U24 HG009650
NIH HHS
Grant: R24 OD011883
NHGRI NIH HHS
Grant: U24 HG009649
National Human Genome Research Institute
Grant: U01HG011744
NHGRI NIH HHS
Grant: U24 HG006834
National Institute of Neurological Disorders and Stroke
Grant: 104591
NHGRI NIH HHS
Grant: R35 HG011297
NICHD NIH HHS
Grant: P50 HD105351
National Medical Research Council
Grant: NMRC/CSAINVJun21-0003
National Institutes of Health
Grant: OD R24 OD011883
NICHD NIH HHS
Grant: U24 HD104591
National Institutes of Health
Grant: 5RM1HG010860-03
A phenomics-first resource for interpretation of variants
National Institutes of Health
Grant: 5U01HG011744-02
University of Washington Mendelian Genomics Research Center (UW-MGRC)
National Institutes of Health
Grant: 5U24HD104591-02
Gene Curation Expert Panel for Syndromic Disorders
National Institutes of Health
Grant: 3U24HG009650-07S1
Administrative Supplement: The Clinical Genome Resource - Advancing genomic medicine through biocuration and expert assessment of genes and variants at scale
National Institutes of Health
Grant: 5U24HG009649-06
Baylor College of Medicine/Stanford University Clinical Genome Resource (CLINGEN)
National Institutes of Health
Grant: 2U24HG006834-08
Broad-Geisinger Clinical Genome Resource
National Institutes of Health
Grant: 5R35HG011297-05
A next-generation morbid map of the human genome
National Institutes of Health
Grant: 5R24OD011883-07
The Monarch Initiative: Linking Diseases to Model Organism Resources
National Cancer Institute
National Institute of Child Health and Human Development
Quebec Health Research Fund
South African Medical Research Council
Fields of Study
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