{"doi":"10.1002/hbm.25354","title":"Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the<scp>ENIGMA</scp>working groups on<scp>CNVs</scp>","abstract":"The Enhancing NeuroImaging Genetics through Meta-Analysis copy number variant (ENIGMA-CNV) and 22q11.2 Deletion Syndrome Working Groups (22q-ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and related cognitive, psychiatric and behavioral manifestations. To that end, the ENIGMA-CNV WG has collated CNV and magnetic resonance imaging (MRI) data from ~49,000 individuals across 38 global research sites, yielding one of the largest studies to date on the effects of CNVs on brain structures in the general population. The 22q-ENIGMA WG includes 12 international research centers that assessed over 533 individuals with a confirmed 22q11.2 deletion syndrome, 40 with 22q11.2 duplications, and 333 typically developing controls, creating the largest-ever 22q11.2 CNV neuroimaging data set. In this review, we outline the ENIGMA infrastructure and procedures for multi-site analysis of CNVs and MRI data. So far, ENIGMA has identified effects of the 22q11.2, 16p11.2 distal, 15q11.2, and 1q21.1 distal CNVs on subcortical and cortical brain structures. Each CNV is associated with differences in cognitive, neurodevelopmental and neuropsychiatric traits, with characteristic patterns of brain structural abnormalities. Evidence of gene-dosage effects on distinct brain regions also emerged, providing further insight into genotype-phenotype relationships. Taken together, these results offer a more comprehensive picture of molecular mechanisms involved in typical and atypical brain development. This \"genotype-first\" approach also contributes to our understanding of the etiopathogenesis of brain disorders. Finally, we outline future directions to better understand effects of CNVs on brain structure and behavior.","journal":"Human Brain Mapping","year":2021,"id":152706,"datarank":1.1624220571886206,"base_score":4.304065093204169,"endowment":4.304065093204169,"self_citation_contribution":0.6456097639806255,"citation_network_contribution":0.516812293207995,"self_endowment_contribution":0.6456097639806255,"citer_contribution":0.516812293207995,"corpus_percentile":82.385704339754,"corpus_rank":2278,"citation_count":73,"citer_count":40,"citers_with_citation_signal":28,"citers_with_endowment":28,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.7984,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":4.1667,"fair_percentile":4.891470498318557,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":107766,"name":"Christopher R. K. Ching","orcid":"0000-0003-2921-3408","position":1,"is_corresponding":false},{"id":107770,"name":"Sophia I. Thomopoulos","orcid":"0000-0002-0046-4070","position":2,"is_corresponding":false},{"id":246427,"name":"Dennis van der Meer","orcid":"0000-0002-0466-386X","position":3,"is_corresponding":false},{"id":109331,"name":"Daqiang Sun","orcid":"0000-0001-7858-8287","position":4,"is_corresponding":false},{"id":285282,"name":"Julio E. Villalón‐Reina","orcid":"0009-0005-9039-4924","position":5,"is_corresponding":false},{"id":62314,"name":"Ingrid Agartz","orcid":"0000-0002-9839-5391","position":6,"is_corresponding":false},{"id":308397,"name":"Katrin Amunts","orcid":"0000-0001-5828-0867","position":7,"is_corresponding":false},{"id":56339,"name":"Celso Arango","orcid":"0000-0003-3382-4754","position":8,"is_corresponding":false},{"id":107778,"name":"Nicola J. Armstrong","orcid":"0000-0002-4477-293X","position":9,"is_corresponding":false},{"id":237617,"name":"Rosa Ayesa‐Arriola","orcid":"0000-0003-0570-5352","position":10,"is_corresponding":false},{"id":236941,"name":"Geor Bakker","orcid":"0000-0002-5998-9322","position":11,"is_corresponding":false},{"id":418644,"name":"Anne S. Bassett","orcid":"0000-0002-0681-7279","position":12,"is_corresponding":false},{"id":5322,"name":"Dorret I. Boomsma","orcid":"0000-0002-7099-7972","position":13,"is_corresponding":false},{"id":107782,"name":"Robin Bülow","orcid":"0000-0003-1884-5784","position":14,"is_corresponding":false},{"id":7309,"name":"Nancy J. Butcher","orcid":"0000-0002-5152-0108","position":15,"is_corresponding":false},{"id":227761,"name":"Vince D. Calhoun","orcid":"0000-0001-9058-0747","position":16,"is_corresponding":false},{"id":332089,"name":"Svenja Caspers","orcid":"0000-0001-5083-4669","position":17,"is_corresponding":false},{"id":289660,"name":"Eva W.C. Chow","orcid":"0000-0002-5734-9778","position":18,"is_corresponding":false},{"id":285212,"name":"Sven Cichon","orcid":"0000-0002-9475-086X","position":19,"is_corresponding":false},{"id":557363,"name":"Simone Ciufolini","orcid":"0000-0002-1968-5041","position":20,"is_corresponding":false},{"id":289656,"name":"Michael Craig","orcid":"0000-0002-5311-8673","position":21,"is_corresponding":false},{"id":78886,"name":"Benedicto Crespo‐Facorro","orcid":"0000-0003-0033-7132","position":22,"is_corresponding":false},{"id":289662,"name":"Adam Cunningham","orcid":"0000-0002-9791-7813","position":23,"is_corresponding":false},{"id":19608,"name":"Anders M. Dale","orcid":"0000-0002-6126-2966","position":24,"is_corresponding":false},{"id":236742,"name":"Paola Dazzan","orcid":"0000-0002-8427-3617","position":25,"is_corresponding":false},{"id":107789,"name":"Greig I. de Zubicaray","orcid":"0000-0003-4506-0579","position":26,"is_corresponding":false},{"id":279140,"name":"Srdjan Djurovic","orcid":"0000-0002-8140-8061","position":27,"is_corresponding":false},{"id":289663,"name":"Joanne Doherty","orcid":"0000-0001-5485-0826","position":28,"is_corresponding":false},{"id":62347,"name":"Gary Donohoe","orcid":"0000-0003-3037-7426","position":29,"is_corresponding":false},{"id":65576,"name":"Bogdan Draganski","orcid":"0000-0002-5159-5919","position":30,"is_corresponding":false},{"id":290550,"name":"Courtney A. Durdle","orcid":null,"position":31,"is_corresponding":false},{"id":107794,"name":"Stefan Ehrlich","orcid":"0000-0003-2132-4445","position":32,"is_corresponding":false},{"id":289657,"name":"Beverly S. Emanuel","orcid":"0000-0002-9207-6955","position":33,"is_corresponding":false},{"id":355770,"name":"Thomas Espeseth","orcid":"0000-0001-9076-6365","position":34,"is_corresponding":false},{"id":109368,"name":"Simon E. Fisher","orcid":"0000-0002-3132-1996","position":35,"is_corresponding":false},{"id":107803,"name":"Tian Ge","orcid":"0000-0003-4785-4444","position":36,"is_corresponding":false},{"id":24964,"name":"David C. Glahn","orcid":"0000-0002-4749-6977","position":37,"is_corresponding":false},{"id":5329,"name":"Hans J. Grabe","orcid":"0000-0003-3684-4208","position":38,"is_corresponding":false},{"id":230042,"name":"Raquel E. Gur","orcid":"0000-0002-4082-8502","position":39,"is_corresponding":false},{"id":107810,"name":"Boris A. Gutman","orcid":"0000-0001-5388-897X","position":40,"is_corresponding":false},{"id":243236,"name":"Jan Haavik","orcid":"0000-0001-7865-2808","position":41,"is_corresponding":false},{"id":337506,"name":"Asta K. Håberg","orcid":"0000-0002-9007-1202","position":42,"is_corresponding":false},{"id":369894,"name":"Laura A. Hansen","orcid":"0000-0003-3436-8412","position":43,"is_corresponding":false},{"id":285224,"name":"Ryota Hashimoto","orcid":"0000-0002-5941-4238","position":44,"is_corresponding":false},{"id":107764,"name":"Derrek P. Hibar","orcid":"0000-0001-9771-8614","position":45,"is_corresponding":false},{"id":16285,"name":"Avram J. Holmes","orcid":"0000-0001-6583-803X","position":46,"is_corresponding":false},{"id":5379,"name":"Jouke‐Jan Hottenga","orcid":"0000-0002-5668-2368","position":47,"is_corresponding":false},{"id":260684,"name":"Hilleke E. Hulshoff Pol","orcid":"0000-0002-2038-5281","position":48,"is_corresponding":false},{"id":243244,"name":"Maria Jalbrzikowski","orcid":"0000-0001-6574-9432","position":49,"is_corresponding":false},{"id":648987,"name":"Emma E. M. Knowles","orcid":null,"position":50,"is_corresponding":false},{"id":263927,"name":"Leila Kushan","orcid":"0000-0002-2650-7147","position":51,"is_corresponding":false},{"id":240744,"name":"David E.J. Linden","orcid":"0000-0002-5638-9292","position":52,"is_corresponding":false},{"id":301189,"name":"Jingyu Liu","orcid":"0000-0002-1724-7523","position":53,"is_corresponding":false},{"id":277314,"name":"Astri J. Lundervold","orcid":"0000-0002-6819-6164","position":54,"is_corresponding":false},{"id":566899,"name":"Sandra Martin‐Brevet","orcid":"0000-0002-3189-3505","position":55,"is_corresponding":false},{"id":648138,"name":"Kenia Martínez","orcid":"0000-0002-6880-1395","position":56,"is_corresponding":false},{"id":236179,"name":"Karen A. Mather","orcid":"0000-0003-4143-8941","position":57,"is_corresponding":false},{"id":107840,"name":"Samuel R. Mathias","orcid":"0000-0002-9332-288X","position":58,"is_corresponding":false},{"id":263879,"name":"Donna M. McDonald‐McGinn","orcid":"0000-0003-4077-250X","position":59,"is_corresponding":false},{"id":236181,"name":"Allan F. McRae","orcid":"0000-0001-5286-5485","position":60,"is_corresponding":false},{"id":5254,"name":"Sarah E. Medland","orcid":"0000-0003-1382-380X","position":61,"is_corresponding":false},{"id":351020,"name":"Torgeir Moberget","orcid":"0000-0002-8564-8257","position":62,"is_corresponding":false},{"id":566898,"name":"Claudia Modenato","orcid":"0000-0002-3051-5705","position":63,"is_corresponding":false},{"id":457645,"name":"Jennifer Monereo Sánchez","orcid":"0000-0001-7587-7737","position":64,"is_corresponding":false},{"id":313464,"name":"Clara Moreau","orcid":"0000-0001-6217-731X","position":65,"is_corresponding":false},{"id":557371,"name":"Thomas W. Mühleisen","orcid":"0000-0002-6057-5952","position":66,"is_corresponding":false},{"id":255768,"name":"Tomáš Paus","orcid":"0000-0003-1495-9338","position":67,"is_corresponding":false},{"id":255764,"name":"Zdenka Pausová","orcid":"0000-0002-7784-1380","position":68,"is_corresponding":false},{"id":648139,"name":"Carlos Alberto Vanegas Prieto","orcid":"0000-0001-8178-9768","position":69,"is_corresponding":false},{"id":275659,"name":"Anjanibhargavi Ragothaman","orcid":"0000-0001-9243-9368","position":70,"is_corresponding":false},{"id":560475,"name":"Céline S. Reinbold","orcid":"0000-0002-3394-3158","position":71,"is_corresponding":false},{"id":557372,"name":"Tiago Reis Marques","orcid":"0000-0003-0602-7661","position":72,"is_corresponding":false},{"id":263913,"name":"Gabriela M. Repetto","orcid":"0000-0003-0120-5684","position":73,"is_corresponding":false},{"id":11786,"name":"Alexandre Reymond","orcid":"0000-0003-1030-8327","position":74,"is_corresponding":false},{"id":235291,"name":"David R. Roalf","orcid":"0000-0002-1728-9782","position":75,"is_corresponding":false},{"id":562266,"name":"Borja Rodríguez‐Herreros","orcid":"0000-0001-9392-7996","position":76,"is_corresponding":false},{"id":648140,"name":"James Rucker","orcid":"0000-0003-4647-8088","position":77,"is_corresponding":false},{"id":48659,"name":"Perminder S. Sachdev","orcid":"0000-0002-9595-3220","position":78,"is_corresponding":false},{"id":648988,"name":"James E. Schmitt","orcid":null,"position":79,"is_corresponding":false},{"id":245388,"name":"Peter R. Schofield","orcid":"0000-0003-2967-9662","position":80,"is_corresponding":false},{"id":566904,"name":"Ana Isabel Silva","orcid":"0000-0002-1184-4909","position":81,"is_corresponding":false},{"id":5388,"name":"Hreinn Stefánsson","orcid":"0000-0002-9331-6666","position":82,"is_corresponding":false},{"id":235059,"name":"Dan J. Stein","orcid":"0000-0001-7218-7810","position":83,"is_corresponding":false},{"id":297649,"name":"Christian K. Tamnes","orcid":"0000-0002-9191-6764","position":84,"is_corresponding":false},{"id":289182,"name":"Diana Tordesillas‐Gutiérrez","orcid":"0000-0003-1458-3932","position":85,"is_corresponding":false},{"id":648141,"name":"Magnús Ö. Úlfarsson","orcid":"0000-0002-0461-040X","position":86,"is_corresponding":false},{"id":289650,"name":"Ariana Vajdi","orcid":"0000-0003-4835-4820","position":87,"is_corresponding":false},{"id":260680,"name":"Dennis van ‘t Ent","orcid":"0000-0003-2001-1375","position":88,"is_corresponding":false},{"id":263883,"name":"Marianne B. M. van den Bree","orcid":"0000-0002-4426-3254","position":89,"is_corresponding":false},{"id":573938,"name":"Evangelos Vassos","orcid":"0000-0001-6363-0438","position":90,"is_corresponding":false},{"id":648142,"name":"Javier Vázquez-Bourgón","orcid":"0000-0002-5478-3376","position":91,"is_corresponding":false},{"id":289661,"name":"Fidel Vila‐Rodriguez","orcid":"0000-0002-8273-8820","position":92,"is_corresponding":false},{"id":648143,"name":"G. Bragi Walters","orcid":"0000-0002-5415-6487","position":93,"is_corresponding":false},{"id":277086,"name":"Wei Wen","orcid":"0000-0003-2753-3870","position":94,"is_corresponding":false},{"id":246433,"name":"Lars T. Westlye","orcid":"0000-0001-8644-956X","position":95,"is_corresponding":false},{"id":235067,"name":"Katharina Wittfeld","orcid":"0000-0003-4383-5043","position":96,"is_corresponding":false},{"id":37350,"name":"Elaine H. Zackai","orcid":"0000-0002-8002-893X","position":97,"is_corresponding":false},{"id":648989,"name":"Kári Stefánsson","orcid":null,"position":98,"is_corresponding":false},{"id":33852,"name":"Sébastien Jacquemont","orcid":"0000-0001-6838-8767","position":99,"is_corresponding":false},{"id":648137,"name":"Ida E. Sønderby","orcid":"0000-0001-7297-7855","position":0,"is_corresponding":true}],"reference_count":187,"raw_metadata":null,"created_at":"2026-07-18T23:43:34.972031Z","pmid":"33615640","pmcid":"PMC8675420","fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":0.0,"fair_a":0.0,"fair_i":0.0,"fair_r":8.3333,"fair_zscore":-1.1986,"fair_rationale":{"fair_score":4.17,"has_llm":true,"taxonomy_version":"fair_taxonomy_v5","dimensions":{"F":{"name":"Findable","score":0.0,"criteria":[{"key":"f_dataset_pid","label":"Persistent identifier for the data","kind":"llm","weight":2.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"The paper does not provide a persistent identifier for its own dataset; the article DOI is excluded per scope rule.","anchors":["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'"],"scored":true,"signal":null},{"key":"f_repository_named","label":"Named repository","kind":"llm","weight":2.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"The paper does not name a repository as the holder of its own data; it is a review article.","anchors":["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"],"scored":true,"signal":null},{"key":"f_data_availability_statement","label":"Data-availability statement","kind":"llm","weight":2.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"The paper contains no data-availability statement (Colavizza category 0).","anchors":["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"],"scored":false,"signal":null},{"key":"f_discovery_metadata","label":"Description of the dataset as an object","kind":"llm","weight":2.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"The paper does not include an itemised inventory of its own dataset; it is a review and does not release a dataset.","anchors":["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'"],"scored":false,"signal":null},{"key":"f_dataset_cited","label":"Dataset formally cited","kind":"llm","weight":1.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"The paper does not cite its own dataset in the reference list or body text.","anchors":["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'"],"scored":true,"signal":null}]},"A":{"name":"Accessible","score":0.0,"criteria":[{"key":"a_data_openly_accessible","label":"Access route free of preconditions","kind":"llm","weight":2.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"The paper does not provide a route to access its own data; it is a review article and does not release a dataset.","anchors":["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'"],"scored":true,"signal":null},{"key":"a_access_conditions_stated","label":"Access level labelled","kind":"llm","weight":1.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"The paper does not label the access level of its own data; it is a review article and does not deposit or describe access conditions for a new dataset.","anchors":["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"],"scored":false,"signal":null},{"key":"a_controlled_access_for_sensitive","label":"Gatekeeper for sensitive data","kind":"llm","weight":0.5,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"The paper does not name a gatekeeper for its own data; it is a review and does not make data available.","anchors":["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"],"scored":false,"signal":null},{"key":"a_timeline_retention","label":"Availability timing & retention","kind":"llm","weight":0.5,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"The paper makes no statement about the timing or persistence of its own data.","anchors":["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'"],"scored":false,"signal":null}]},"I":{"name":"Interoperable","score":0.0,"criteria":[{"key":"i_open_nonproprietary_format","label":"Open file format","kind":"llm","weight":1.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"The paper does not name a file format for its own data.","anchors":["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"],"scored":true,"signal":null},{"key":"i_community_standard_vocabulary","label":"Community standard / vocabulary","kind":"llm","weight":1.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"The paper does not name a data or metadata community standard applied to its own data.","anchors":["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'"],"scored":false,"signal":null},{"key":"i_qualified_references","label":"Identifiers for the resources the data depend on","kind":"llm","weight":0.5,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"The paper does not provide an identifier for any external resource that its own data depend on; it is a review with no own dataset.","anchors":["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'"],"scored":false,"signal":null}]},"R":{"name":"Reusable","score":8.33,"criteria":[{"key":"r_reuse_license","label":"Reuse licence","kind":"llm","weight":2.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"The paper does not attach a license to its own data; the CC BY license applies to the article only.","anchors":["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'"],"scored":true,"signal":null},{"key":"r_provenance_methods","label":"Provenance of the data","kind":"llm","weight":1.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"The paper does not name specific instruments or software used to produce its own data. [majority verdict 'no' (3/5 passes agreed)]","anchors":["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"],"scored":false,"signal":null},{"key":"r_documentation_codebook","label":"Documentation / codebook","kind":"llm","weight":1.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"The paper does not name a documentation object shipped with its own data.","anchors":["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"],"scored":false,"signal":null},{"key":"r_versioning","label":"Snapshot identified","kind":"llm","weight":0.5,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"The paper does not provide a version token or date for its own data.","anchors":["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'"],"scored":true,"signal":null},{"key":"x_code_availability","label":"Analysis code available","kind":"llm","weight":1.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"The paper does not provide a locator for code written in this study; the GitHub link mentioned is for a third-party tool. [majority verdict 'no' (4/5 passes agreed)]","anchors":["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)"],"scored":true,"signal":null},{"key":"x_funding_attribution","label":"Funder and award number","kind":"llm","weight":0.5,"fraction":1.0,"verdict":"yes","evidence":"Funding information European Union's Horizon2020 Research and Innovation Programme, Grant/Award Number: CoMorMent project; Grant #847776; KG Jebsen Stiftelsen; National Institutes of Health, Grant/Award Number: U54 EB020403; Norges Forskningsråd, Grant/Award Number: #223273; South-Eastern Norway Regional Health Authority, Grant/Award Number: #2020060","grounded":true,"rationale":"The paper includes a funding section with grant numbers and funder names. [majority verdict 'yes' (4/5 passes agreed)]","anchors":["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"],"scored":true,"signal":null}]}},"actions":[{"key":"f_dataset_pid","dimension":"F","label":"Persistent identifier for the data","action":"Mint or cite a persistent identifier for the dataset — a repository DOI or an accession from a registered repository — and print it in the paper. A bare URL is not persistent: it is the single most common cause of a dead data link five years after publication.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"The paper does not provide a persistent identifier for its own dataset; the article DOI is excluded per scope rule.","gain":16.67,"priority":"essential","scored":true},{"key":"f_repository_named","dimension":"F","label":"Named repository","action":"Deposit the data in a repository registered in re3data/FAIRsharing (a domain repository such as GEO, SRA, dbGaP, PRIDE, or a generalist such as Zenodo, Dryad, Dataverse) and name it explicitly in the paper. A lab website is not an archive: it has no retention commitment and no accession.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"The paper does not name a repository as the holder of its own data; it is a review article.","gain":16.67,"priority":"essential","scored":true},{"key":"a_data_openly_accessible","dimension":"A","label":"Access route free of preconditions","action":"Remove the precondition or justify it. Release the data at publication with no embargo, no registration wall, and no approval step — NIH's zero-embargo public- access rule (NOT-OD-25-101) has already made 'available at publication' the federal baseline for the article; the data should not lag behind it.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"The paper does not provide a route to access its own data; it is a review article and does not release a dataset.","gain":16.67,"priority":"essential","scored":true},{"key":"r_reuse_license","dimension":"R","label":"Reuse licence","action":"Attach a standard, machine-readable open licence to the deposit — CC0 or CC BY, which is what Horizon Europe and most funders expect — and print the licence identifier in the paper. 'Free to use' is not a licence: it grants nothing a reuser's institution can rely on.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"The paper does not attach a license to its own data; the CC BY license applies to the article only.","gain":16.67,"priority":"essential","scored":true},{"key":"f_dataset_cited","dimension":"F","label":"Dataset formally cited","action":"Cite the dataset in the reference list like a publication — creator, year, title, repository, DOI/accession — and cite it in-text where it is used. Only a reference- list entry is machine-readable to Crossref/DataCite, and only a citation lets the data earn credit.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"The paper does not cite its own dataset in the reference list or body text.","gain":8.33,"priority":"important","scored":true},{"key":"i_open_nonproprietary_format","dimension":"I","label":"Open file format","action":"Release the data in an open, community-standard format (CSV/TSV, JSON, HDF5, NetCDF, FASTQ, VCF, NIfTI…) instead of — or alongside — any proprietary or instrument-native format, and name the format in the paper. A dataset that needs a €2,000 licence to open is not reusable.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"The paper does not name a file format for its own data.","gain":8.33,"priority":"important","scored":true},{"key":"x_code_availability","dimension":"R","label":"Analysis code available","action":"Publish the analysis code in a public forge, archive a tagged release with a DOI (Zenodo/Software Heritage), and cite that DOI in the paper. NIH DMS Element 2 asks for the tools and code, not only the data — and 'available on request' is not a locator.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"The paper does not provide a locator for code written in this study; the GitHub link mentioned is for a third-party tool. [majority verdict 'no' (4/5 passes agreed)]","gain":8.33,"priority":"important","scored":true},{"key":"r_versioning","dimension":"R","label":"Snapshot identified","action":"Version the deposit and cite the exact version analysed (a version-specific DOI, or an accession with its version suffix). A reader reproducing your work against 'the current release' is reproducing it against a different dataset.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"The paper does not provide a version token or date for its own data.","gain":4.17,"priority":"useful","scored":true},{"key":"f_data_availability_statement","dimension":"F","label":"Data-availability statement","action":"Replace the statement with the repository template: name the repository and give the accession or DOI (Colavizza category 3). This is the only DAS class associated with a measured citation advantage; 'available on reasonable request' and 'within the article' are not.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"The paper contains no data-availability statement (Colavizza category 0).","gain":0.0,"priority":"essential","scored":false},{"key":"f_discovery_metadata","dimension":"F","label":"Description of the dataset as an object","action":"Add a 'Data Records' section: itemise every file in the deposit and every variable or sample it holds, with counts and units. Describe the dataset as an object in its own right, not as a by-product of the findings — this is what makes it discoverable to someone who is not looking for your paper.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"The paper does not include an itemised inventory of its own dataset; it is a review and does not release a dataset.","gain":0.0,"priority":"essential","scored":false},{"key":"a_access_conditions_stated","dimension":"A","label":"Access level labelled","action":"State the access level in words, using the standard vocabulary: 'These data are open access' / 'These data are controlled access'. A reader — and a harvester — should not have to infer the access level from the presence of a download link.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"The paper does not label the access level of its own data; it is a review article and does not deposit or describe access conditions for a new dataset.","gain":0.0,"priority":"important","scored":false},{"key":"i_community_standard_vocabulary","dimension":"I","label":"Community standard / vocabulary","action":"Adopt and NAME your domain's data standard — the minimum-information checklist, metadata schema, or ontology your community uses (MIAME/MINSEQE, ISA-Tab, BIDS, an OBO ontology, HL7 FHIR/OMOP) — and say which one you followed. A reporting checklist standardises your paper; it does nothing for your data.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"The paper does not name a data or metadata community standard applied to its own data.","gain":0.0,"priority":"important","scored":false},{"key":"r_provenance_methods","dimension":"R","label":"Provenance of the data","action":"Name the instruments, kits, and software — with versions — that produced the data, not just the verbs. 'Reads were aligned' is not provenance; 'aligned with STAR v2.7.9a to GRCh38' is, because someone else can rerun it.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"The paper does not name specific instruments or software used to produce its own data. [majority verdict 'no' (3/5 passes agreed)]","gain":0.0,"priority":"important","scored":false},{"key":"r_documentation_codebook","dimension":"R","label":"Documentation / codebook","action":"Ship a README and a data dictionary IN the deposit — every file, every variable, its units, its allowed values, its missing-value codes. It is the cheapest single thing that makes a dataset usable by someone who was not in the lab, and a table buried in the article does not travel with the data.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"The paper does not name a documentation object shipped with its own data.","gain":0.0,"priority":"important","scored":false},{"key":"a_controlled_access_for_sensitive","dimension":"A","label":"Gatekeeper for sensitive data","action":"Route sensitive data through an institutional gatekeeper — deposit in a controlled- access repository (dbGaP, EGA) with a Data Access Committee and a published DUA — rather than through the corresponding author's inbox. An author-gated dataset dies with the author's email address, and 'on reasonable request' has been shown repeatedly not to yield data.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"The paper does not name a gatekeeper for its own data; it is a review and does not make data available.","gain":0.0,"priority":"useful","scored":false},{"key":"i_qualified_references","dimension":"I","label":"Identifiers for the resources the data depend on","action":"Cite by identifier every resource the data depend on — the source datasets' accessions, the reference build (GRCh38 / GCA_000001405.28), the cohort application number, the code DOI — and register those relations on the dataset record (IsDerivedFrom, IsSupplementTo). A name is not a link: it cannot be resolved, versioned, or followed by a machine.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"The paper does not provide an identifier for any external resource that its own data depend on; it is a review with no own dataset.","gain":0.0,"priority":"useful","scored":false},{"key":"a_timeline_retention","dimension":"A","label":"Availability timing & retention","action":"State when the data become available AND how long they will be retained — cite the repository's preservation policy. NIH DMS Element 4 asks for both; most papers give neither.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"The paper makes no statement about the timing or persistence of its own data.","gain":0.0,"priority":"useful","scored":false}],"suggestions":["Mint or cite a persistent identifier for the dataset — a repository DOI or an accession from a registered repository — and print it in the paper. A bare URL is not persistent: it is the single most common cause of a dead data link five years after publication.","Deposit the data in a repository registered in re3data/FAIRsharing (a domain repository such as GEO, SRA, dbGaP, PRIDE, or a generalist such as Zenodo, Dryad, Dataverse) and name it explicitly in the paper. A lab website is not an archive: it has no retention commitment and no accession.","Remove the precondition or justify it. Release the data at publication with no embargo, no registration wall, and no approval step — NIH's zero-embargo public- access rule (NOT-OD-25-101) has already made 'available at publication' the federal baseline for the article; the data should not lag behind it.","Attach a standard, machine-readable open licence to the deposit — CC0 or CC BY, which is what Horizon Europe and most funders expect — and print the licence identifier in the paper. 'Free to use' is not a licence: it grants nothing a reuser's institution can rely on.","Cite the dataset in the reference list like a publication — creator, year, title, repository, DOI/accession — and cite it in-text where it is used. Only a reference- list entry is machine-readable to Crossref/DataCite, and only a citation lets the data earn credit."],"model":"deepseek/deepseek-v4-flash","agent_version":"fair_agent_v8","fulltext_source":"unpaywall_pdf"},"fair_model":"deepseek/deepseek-v4-flash","fair_agent_version":"fair_agent_v8","fair_fulltext_source":"unpaywall_pdf","fair_has_llm":true,"fair_computed_at":"2026-07-20T11:10:58.408144Z","clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}