Finding commonalities in rare diseases through the undiagnosed diseases network is a dataset published in Journal of the American Medical Informatics Association (2021). On theSindex it has a DataRank of 0.715, placing it in the top 28% of the data-sharing corpus. It has been cited 8 times, with 8 citing works in its 1-hop citation network. Its calibrated FAIR score is 23/100.
Ranks in the top 28% 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.
No persistent identifier (DOI, Handle, ARK, or repository accession) is provided for the study's own dataset.
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'
“UDN data are available to approved researchers only.”
The Undiagnosed Diseases Network is named as the holder, but it is not a data repository in the 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 dataset does not appear as a reference-list entry; no identifier for the data is cited in the bibliography.
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 underlying this article cannot be shared publicly as it is only available to authorized investigators of the Undiagnosed Diseases Network.”
The statement indicates data are available on request to authorized investigators, corresponding to Colavizza category 1 (data available on request). [majority verdict 'partial' (4/5 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
“The data analyzed consisted of general information including age at onset, age at UDN evaluation, primary symptom reported on application or assigned by clinical experts during record review, and Human Phenotype Ontology (HPO) terms that were annotated using PhenoTips by clinicians (with no number restriction).”— not found in the paper; verdict downgraded
The dataset content is described in running prose without an itemized inventory (section, table, or enumerated list). [downgraded to 'no' — no verifiable quote from the paper] [majority verdict 'no' (4/5 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'
“The data underlying this article cannot be shared publicly as it is only available to authorized investigators of the Undiagnosed Diseases Network.”
The paper states the data are not publicly available and only accessible to authorized investigators, with no followable process described. [majority verdict 'no' (3/5 passes agreed)]
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
“UDN data are available to approved researchers only.”
The paper explicitly labels the data as available only to approved researchers, which is a natural-language equivalent of restricted access. [majority verdict 'yes' (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
“available to authorized investigators of the Undiagnosed Diseases Network.”
The gatekeeper is the Undiagnosed Diseases Network, an institutional body that controls access to the data. [majority verdict 'yes' (3/5 passes agreed)]
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
The paper does not address either the timing of data availability or the duration of data retention.
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; the primary data are not publicly available and their format is unspecified.
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) terms that were annotated using PhenoTips by clinicians”
The Human Phenotype Ontology (HPO) is a community standard ontology registered in FAIRsharing, used for phenotype annotation. [majority verdict 'yes' (4/5 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'
The paper does not provide identifiers (e.g., DOIs, accessions) for external resources in the text; only literature references are given. [majority verdict 'no' (3/5 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 attached to the data; the CC BY license applies to the article only, not the data.
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'
“as of May 6, 2019”
The paper provides a snapshot date ('as of May 6, 2019') but no version token, qualifying as a partial artefact. [majority verdict 'partial' (4/5 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'
“Open-source code is publicly available online ( https://github.com/hms-dbmi/UDN-gateway-clusters ).”
The paper provides a machine-resolvable GitHub URL for the code, which is an authoritative locator.
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)
“U01HG007530”
The paper provides a specific grant number (U01HG007530) from the National Institutes of Health Common Fund.
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
“This observational study analyzes 1042 patients from the Undiagnosed Diseases Network (2015-2019), a multicenter, nationwide research study using phenotypic data annotated by specialized staff using Human Phenotype Ontology terms.”
The data collection is described in generic terms (annotated by staff) without naming specific instruments, kits, or software versions. [majority verdict 'partial' (3/5 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. Analysis of the UDN database as of May 6, 2019, depicting age, race, ethnicity, primary symptoms, and clinical sites of evaluation”
Variable definitions are provided inside the article via a table, but no separate documentation object accompanies the data. [majority verdict 'partial' (3/5 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 →
Base Score Contribution
0.330
From this paper's citation signal
Citation Network Contribution
0.386
From 5 citing papers with measurable signal
Ranked by each citer's contribution to N(p) — log1p(Cq) divided by its reference count — out of 8 citers.
Office of the National Institutes of Health Director
Grant: U01HG007530
National Institutes of Health Common Fund
Office of Strategic Coordination
National Institutes of Health
FWCI
0.80
Citation Percentile
0.8%
Citation Trend
Fields of Study
MeSH Terms
Keywords