Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy is a dataset published in Annals of Clinical and Translational Neurology (2024). On theSindex it has a DataRank of 0.252, placing it in the top 59.7% of the data-sharing corpus. It has been cited 4 times, with 1 citing works in its 1-hop citation network. Its calibrated FAIR score is 42/100.
Ranks in the top 60% 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.
“The data described in this manuscript are available through the ClinGen website 12 and from the corresponding author via request.”
The strongest identifier given is a web URL (https://search.clinicalgenome.org/...), not a persistent identifier scheme. [majority verdict 'partial' (3/5 passes agreed)]
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'
“The data described in this manuscript are available through the ClinGen website 12 and from the corresponding author via request.”
ClinGen is a project/consortium website, not a repository listed in the rubric's class-1 list. [majority verdict 'partial' (3/5 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 data described in this manuscript are available through the ClinGen website”
The dataset identifier (the ClinGen website URL) appears only in the body text, not as a reference-list entry. [majority verdict 'partial' (4/5 passes agreed)]
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 described in this manuscript are available through the ClinGen website and from the corresponding author via request.”— not found in the paper; verdict downgraded
The statement points to a public repository (ClinGen website), which qualifies as category 3 (link to archived data in a public repository). [downgraded to 'partial' — no verifiable quote from the paper] [majority verdict 'partial' (3/5 passes agreed)]
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
“Table 1. Clinical validity classification of curated gene–disease relationships.”— not found in the paper; verdict downgraded
The paper provides an itemised inventory of the dataset via Table 1, which lists the genes, disease entities, and classifications. [downgraded to 'partial' — no verifiable quote from the paper]
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'
“The data described in this manuscript are available through the ClinGen website”
The primary route (ClinGen website) is stated without any precondition, so the data are openly accessible.
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
“The data described in this manuscript are available through the ClinGen website”
The paper describes an action (accessing the website) but does not apply an explicit access-level label from the standard vocabulary, so it is a partial artefact. [majority verdict 'partial' (4/5 passes agreed)]
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 human-subject data, and no gatekeeper of any kind is named; the criterion is not applicable and no artefact exists.
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
No sentence in the paper addresses the timing or persistence of the data's availability. [majority verdict 'no' (3/5 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 of any kind 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
“The ClinGen gene–disease clinical validity framework”— not found in the paper; verdict downgraded
The ClinGen framework is a community standard for gene-disease validity, and the paper also uses the Mondo ontology. [downgraded to 'partial' — no verifiable quote from the paper] [majority verdict 'partial' (3/5 passes agreed)]
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'
“https://search.clinicalgenome.org/kb/affiliate/10061?page=1&size=25&search=”— not found in the paper; verdict downgraded
The paper provides a URL identifier for the ClinGen curation page, an external resource. [downgraded to 'no' — no verifiable quote from the paper] [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 or reuse terms are stated for the data themselves; the CC license applies only to the article.
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'
Neither a version token nor a date is provided to identify the snapshot of the data.
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'
The paper does not describe any code written for this study; 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)
“U24HG009650”
The paper provides an explicit award/grant number (U24HG009650) attached to a named funder.
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
“The curated genetic evidence included variants in the gene of interest identified in patients with the disease entity being curated for, which included case reports, family studies, and linkage analyses.”
The methods are described in generic terms without naming specific instruments, kits, or software versions. [majority verdict 'partial' (2/5 passes agreed)]
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
“Table 1. Clinical validity classification of curated gene–disease relationships.”— not found in the paper; verdict downgraded
Variable-level definitions (gene list, classifications) are provided inside the article via Table 1, but no documentation object is stated to accompany the data in the repository. [downgraded to 'no' — no verifiable quote from the paper]
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 →
Base Score Contribution
0.241
From this paper's citation signal
Citation Network Contribution
0.0102
From 1 citing papers with measurable signal
Ranked by each citer's contribution to N(p) — log1p(Cq) divided by its reference count — out of 1 citer.
National Human Genome Research Institute
Grant: U24HG009650
NIAMS NIH HHS
Grant: R01 AR068797
NIAMS NIH HHS
Grant: K24 AR073317
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
FWCI
0.64
Citation Percentile
0.7%
Citation Trend
Fields of Study
MeSH Terms
Keywords
Sustainable Development Goals