A cross-disorder dosage sensitivity map of the human genome is a dataset published in Cell (2022). On theSindex it has a DataRank of 4.7, placing it in the top 4.6% of the data-sharing corpus. It has been cited 367 times, with 100 citing works in its 1-hop citation network. Its calibrated FAIR score is 60/100.
Ranks in the top 5% for downstream scientific impact
Linked data & code
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://zenodo.org/record/6347673”
The identifier is a URL to a Zenodo record, not a DOI or other PID scheme from the accepted list. [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'
“Zenodo”
The paper names Zenodo as the repository where the data are deposited.
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
“https://zenodo.org/record/6347673”
The dataset identifier appears only in the key resources table (body text), not in the reference list.
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
“All genome-wide association summary statistics, gene features, and gene dosage sensitivity scores have been deposited at Zenodo and are publicly available as of the date of publication. DOIs are listed in the key resources table.”
The statement points to a repository (Zenodo) with a persistent link, fitting Colavizza category 3.
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
“All genome-wide association summary statistics, gene features, and gene dosage sensitivity scores”
The dataset content is described in running prose, not in an itemised inventory or table. [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'
“All genome-wide association summary statistics, gene features, and gene dosage sensitivity scores have been deposited at Zenodo and are publicly available as of the date of publication.”
The paper 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
“All genome-wide association summary statistics, gene features, and gene dosage sensitivity scores have been deposited at Zenodo and are publicly available as of the date of publication.”
The paper explicitly labels the data as 'publicly available', which is a standard access-rights label.
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 deposited data are aggregate summary statistics and scores, not sensitive individual-level data; no gatekeeper is named for these data.
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
“publicly available as of the date of publication”
The paper gives an availability timing (date of publication) but no persistence commitment.
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 deposited 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”
The paper states it mapped phenotypes onto the Human Phenotype Ontology, a community standard.
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://doi.org/10.1038/s41586-020-2832-5”
The paper provides a DOI for a de novo mutation dataset (Kaplanis et al.) used in the study.
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.
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 the date of publication”
The paper gives a date (date of publication) but no version token for 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'
“https://doi.org/10.5281/zenodo.6647918”
The paper provides a DOI for the code, which is a machine-resolvable 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)
“MH115957”
The paper lists specific grant numbers, such as MH115957, from the NIH.
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
“Illumina MegaEx microarray platform”
The paper names the specific microarray platform used for CNV detection.
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
No README, data dictionary, or codebook is named as accompanying the deposited data.
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
0.886
From this paper's citation signal
Citation Network Contribution
3.9
From 100 citing papers with measurable signal
Ranked by each citer's contribution to N(p) — log1p(Cq) divided by its reference count — out of 100 citers.
Horizon 2020
Grant: 101016775
National Institutes of Health
Grant: DE031261
National Institutes of Health
Grant: MH106826
National Institutes of Health
Grant: HD096326
National Institutes of Health
Grant: HD099547
National Institutes of Health
Grant: DE026824
National Institutes of Health
Grant: MH115957
National Institutes of Health
Grant: NS093200
National Institutes of Health
Grant: HD081256
National Institutes of Health
Grant: HD105266
European Regional Development Fund
Grant: 2014-2020.4.01.16-0125
Swiss National Science Foundation
Grant: 31003A_182632
Swiss National Science Foundation
Grant: 32473B-166450
Swiss National Science Foundation
Grant: 310030-189147
National Science Foundation
Grant: 2017240332
Eesti Teadusagentuur
Grant: PUT ( PRG687
Eesti Teadusagentuur
Grant: PUT ( PRG1291
Eesti Teadusagentuur
Grant: PUT ( PRG555
National Human Genome Research Institute
Grant: T32HG002295
NINDS NIH HHS
Grant: R01 NS093200
NIMH NIH HHS
Grant: R56 MH115957
NICHD NIH HHS
Grant: R03 HD099547
NIMH NIH HHS
Grant: R01 MH115957
NINDS NIH HHS
Grant: R01 NS102423
NIMH NIH HHS
Grant: R01 MH106826
NINDS NIH HHS
Grant: K08 NS117891
NIDCR NIH HHS
Grant: R00 DE026824
NICHD NIH HHS
Grant: R01 HD081256
NIDCR NIH HHS
Grant: R01 DE031261
NICHD NIH HHS
Grant: R01 HD096326
Swiss National Science Foundation
Grant: 182632
NINDS NIH HHS
Grant: L30 NS093200
NICHD NIH HHS
Grant: P50 HD104224
Horizon 2020 Framework Programme
Horizon 2020
Microsoft
European Commission
Simons Foundation Autism Research Initiative
FWCI
57.52
Citation Percentile
1.0%
Citation Trend
Fields of Study
MeSH Terms
Keywords
Additional file 1 of Characterization of large-scale genomic differences in the first complete human genome
Additional file 1 of Characterization of large-scale genomic differences in the first complete human genome
Additional file 3 of Characterization of large-scale genomic differences in the first complete human genome
Additional file 3 of Characterization of large-scale genomic differences in the first complete human genome
Additional file 1 of Rare copy-number variants as modulators of common disease susceptibility
Additional file 1 of Rare copy-number variants as modulators of common disease susceptibility
Additional file 2 of Rare copy-number variants as modulators of common disease susceptibility
Additional file 2 of Rare copy-number variants as modulators of common disease susceptibility
Additional file 1 of Phase separation as a possible mechanism for dosage sensitivity
Additional file 1 of Phase separation as a possible mechanism for dosage sensitivity
Additional file 2 of Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes
Additional file 2 of Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes
Additional file 9 of Phase separation as a possible mechanism for dosage sensitivity
Additional file 9 of Phase separation as a possible mechanism for dosage sensitivity
Additional file 3 of Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes
Additional file 3 of Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes
Additional file 2 of Analysis of copy number variants detected by sequencing in spontaneous abortion
Additional file 3 of Analysis of copy number variants detected by sequencing in spontaneous abortion
Additional file 2 of Analysis of copy number variants detected by sequencing in spontaneous abortion
Additional file 1 of Analysis of copy number variants detected by sequencing in spontaneous abortion