{"doi":"10.1038/s41597-024-03485-9","title":"Genetic and multi-omic resources for Alzheimer disease and related dementia from the Knight Alzheimer Disease Research Center","abstract":"The Knight-Alzheimer Disease Research Center (Knight-ADRC) at Washington University in St. Louis has pioneered and led worldwide seminal studies that have expanded our clinical, social, pathological, and molecular understanding of Alzheimer Disease. Over more than 40 years, research volunteers have been recruited to participate in cognitive, neuropsychologic, imaging, fluid biomarkers, genomic and multi-omic studies. Tissue and longitudinal data collected to foster, facilitate, and support research on dementia and aging. The Genetics and high throughput -omics core (GHTO) have collected of more than 26,000 biological samples from 6,625 Knight-ADRC participants. Samples available include longitudinal DNA, RNA, non-fasted plasma, cerebrospinal fluid pellets, and peripheral blood mononuclear cells. The GHTO has performed deep molecular profiling (genomic, transcriptomic, epigenomic, proteomic, and metabolomic) from large number of brain (n = 2,117), CSF (n = 2,012) and blood/plasma (n = 8,265) samples with the goal of identifying novel risk and protective variants, identify novel molecular biomarkers and causal and druggable targets. Overall, the resources available at GHTO support the increase of our understanding of Alzheimer Disease.","journal":"Scientific Data","year":2024,"id":483926,"datarank":0.6948229905067442,"base_score":3.5263605246161616,"endowment":3.5263605246161616,"self_citation_contribution":0.5289540786924243,"citation_network_contribution":0.16586891181431995,"self_endowment_contribution":0.5289540786924243,"citer_contribution":0.16586891181431995,"corpus_percentile":71.22302158273381,"corpus_rank":3721,"citation_count":33,"citer_count":16,"citers_with_citation_signal":8,"citers_with_endowment":8,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.8586,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":66.6667,"fair_percentile":86.48731274839498,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1013914,"name":"Menghan Liu","orcid":"0009-0008-9902-5983","position":1,"is_corresponding":false},{"id":1084816,"name":"Aleksandra Beric","orcid":"0000-0002-9351-585X","position":2,"is_corresponding":false},{"id":1021950,"name":"Matt Johnson","orcid":null,"position":3,"is_corresponding":false},{"id":1325412,"name":"Arda Cetin","orcid":"0000-0003-4297-5984","position":4,"is_corresponding":false},{"id":337125,"name":"Maulik Patel","orcid":"0000-0003-3749-0122","position":5,"is_corresponding":false},{"id":27622,"name":"John Budde","orcid":"0000-0001-7778-7276","position":6,"is_corresponding":false},{"id":988742,"name":"Pat Kohlfeld","orcid":null,"position":7,"is_corresponding":false},{"id":365493,"name":"Kristy Bergmann","orcid":null,"position":8,"is_corresponding":false},{"id":1325413,"name":"Joseph L. Lowery","orcid":"0009-0009-0318-7716","position":9,"is_corresponding":false},{"id":1326086,"name":"Allison Flynn","orcid":null,"position":10,"is_corresponding":false},{"id":1206438,"name":"William Brock","orcid":null,"position":11,"is_corresponding":false},{"id":1326087,"name":"Brenda Sanchez Montejo","orcid":null,"position":12,"is_corresponding":false},{"id":874607,"name":"Jen Gentsch","orcid":null,"position":13,"is_corresponding":false},{"id":1325414,"name":"Nicholas Sykora","orcid":"0009-0008-1203-8627","position":14,"is_corresponding":false},{"id":399073,"name":"Joanne Norton","orcid":null,"position":15,"is_corresponding":false},{"id":1291012,"name":"Olga Valdez","orcid":null,"position":17,"is_corresponding":false},{"id":573589,"name":"Priyanka Gorijala","orcid":"0000-0001-7109-7362","position":18,"is_corresponding":false},{"id":876492,"name":"Jessie Sanford","orcid":"0000-0001-5992-3027","position":19,"is_corresponding":false},{"id":773709,"name":"Yi-Chen Sun","orcid":"0000-0002-3247-0774","position":20,"is_corresponding":false},{"id":831277,"name":"Ciyang Wang","orcid":"0000-0001-5253-0490","position":21,"is_corresponding":false},{"id":17602,"name":"Daniel Western","orcid":"0000-0003-3725-9553","position":22,"is_corresponding":false},{"id":17614,"name":"Jigyasha Timsina","orcid":"0000-0003-4794-9187","position":23,"is_corresponding":false},{"id":566993,"name":"Tássia Mangetti Gonçalves","orcid":"0000-0003-2929-9686","position":24,"is_corresponding":false},{"id":484235,"name":"Anh N.","orcid":"0000-0002-3316-9887","position":25,"is_corresponding":false},{"id":337940,"name":"Yun Ju Sung","orcid":"0000-0002-8021-4070","position":26,"is_corresponding":false},{"id":271904,"name":"Guoyan Zhao","orcid":"0000-0001-5615-6774","position":27,"is_corresponding":false},{"id":27593,"name":"John C. Morris","orcid":"0000-0001-9820-5618","position":28,"is_corresponding":false},{"id":480189,"name":"Krista L. Moulder","orcid":null,"position":29,"is_corresponding":false},{"id":27592,"name":"David M. Holtzman","orcid":"0000-0002-3400-0856","position":30,"is_corresponding":false},{"id":228359,"name":"Randall J. Bateman","orcid":"0000-0002-7729-1702","position":31,"is_corresponding":false},{"id":301876,"name":"Celeste M. Karch","orcid":"0000-0002-6854-5547","position":32,"is_corresponding":false},{"id":226993,"name":"Jason Hassenstab","orcid":"0000-0002-7802-3371","position":33,"is_corresponding":false},{"id":477059,"name":"Chengjie Xiong","orcid":"0009-0003-8949-2629","position":34,"is_corresponding":false},{"id":310970,"name":"Suzanne E. Schindler","orcid":"0000-0002-1680-1465","position":35,"is_corresponding":false},{"id":490643,"name":"Joyce E. Balls‐Berry","orcid":"0000-0003-3497-1115","position":36,"is_corresponding":false},{"id":301875,"name":"Tammie L.S. Benzinger","orcid":"0000-0002-8114-0552","position":37,"is_corresponding":false},{"id":308303,"name":"Richard J. Perrin","orcid":"0000-0002-3443-7716","position":38,"is_corresponding":false},{"id":1100951,"name":"Andrea Denny","orcid":null,"position":39,"is_corresponding":false},{"id":322243,"name":"B. Joy Snider","orcid":null,"position":40,"is_corresponding":false},{"id":442340,"name":"Susan Stark","orcid":"0000-0002-2816-7158","position":41,"is_corresponding":false},{"id":17647,"name":"Laura Ibáñez","orcid":"0000-0003-2381-7059","position":42,"is_corresponding":false},{"id":230680,"name":"Carlos Cruchaga","orcid":"0000-0002-0276-2899","position":43,"is_corresponding":false},{"id":27621,"name":"María Victoria Fernández","orcid":"0000-0002-9669-5147","position":0,"is_corresponding":true}],"reference_count":85,"raw_metadata":null,"created_at":"2026-07-19T02:07:38.055693Z","pmid":"38997326","pmcid":"PMC11245521","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":88.8889,"fair_a":50.0,"fair_i":60.0,"fair_r":58.3333,"fair_zscore":1.2752,"fair_rationale":{"fair_score":66.67,"has_llm":true,"taxonomy_version":"fair_taxonomy_v5","dimensions":{"F":{"name":"Findable","score":88.89,"criteria":[{"key":"f_dataset_pid","label":"Persistent identifier for the data","kind":"llm","weight":2.0,"fraction":1.0,"verdict":"yes","evidence":"array-based genotyping data (NG00127), sequence data (NG00067), transcriptomic (NG00083), plasma acellular transcriptomics (NG00142), small RNA transcriptomics (NG00167 and NG00168), proteomic (NG00102; NG00128), metabolomic and lipidomic (NG00113), methylation (NG00114), single nuclei brain transcriptomic data (NG00108)","grounded":true,"rationale":"The paper lists NIAGADS accession numbers, which are persistent identifiers for the datasets. [majority verdict 'yes' (3/5 passes agreed)]","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":1.0,"verdict":"yes","evidence":"All data generated from Knight-ADRC participants have been and will be deposited at NIAGADS","grounded":true,"rationale":"NIAGADS is a recognised data repository (National Institute on Aging Genetics of Alzheimer's Disease Data Storage). [majority verdict 'yes' (3/5 passes agreed)]","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":1.0,"verdict":"yes","evidence":"All data generated from Knight-ADRC participants have been and will be deposited at NIAGADS under the Knight ADRC collection","grounded":true,"rationale":"The statement points to a repository (NIAGADS) with accessions, satisfying Colavizza category 3. [majority verdict 'yes' (4/5 passes agreed)]","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":1.0,"verdict":"yes","evidence":"Table 5. 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[downgraded to 'no' — no verifiable quote from the paper] [majority verdict 'no' (4/5 passes agreed)]","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":50.0,"criteria":[{"key":"a_data_openly_accessible","label":"Access route free of preconditions","kind":"llm","weight":2.0,"fraction":0.5,"verdict":"partial","evidence":"Data is only shared for participants with the appropriate consent level","grounded":true,"rationale":"The access route carries a precondition based on consent level, making it conditional. 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[majority verdict 'partial' (3/5 passes agreed)]","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":0.5,"verdict":"partial","evidence":"NIAGADS","grounded":false,"rationale":"The paper names NIAGADS, a controlled-access repository, as the institutional gatekeeper for the sensitive human-subject data. [downgraded to 'partial' — no verifiable quote from the paper] [majority verdict 'partial' (2/5 passes agreed)]","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":0.5,"verdict":"partial","evidence":"All data generated from Knight-ADRC participants have been and will be deposited at NIAGADS under the Knight ADRC collection","grounded":true,"rationale":"The paper states that data have been and will be deposited, indicating availability timing but no explicit persistence commitment. 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[majority verdict 'no' (3/5 passes agreed)]","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":1.0,"verdict":"yes","evidence":"reference genome GRCh38","grounded":true,"rationale":"The paper provides a genome build identifier (GRCh38) for a resource other than its own dataset. 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[majority verdict 'yes' (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":"P30AG066444","grounded":true,"rationale":"The paper provides a specific grant number for the funding.","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":"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. 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[downgraded to 'partial' — no verifiable quote from the paper] [majority verdict 'partial' (2/5 passes agreed)]","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":"partial","current":0.5,"evidence":"All data generated from Knight-ADRC participants have been and will be deposited at NIAGADS under the Knight ADRC collection","why":"The paper states that data have been and will be deposited, indicating availability timing but no explicit persistence commitment. [majority verdict 'partial' (3/5 passes agreed)]","gain":0.0,"priority":"useful","scored":false}],"suggestions":["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.","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. For proteomics data, deposit in PRIDE (PXD accession) or ProteomeXchange.","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. 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In proteomics, describe the data with mzML or MIAPE."],"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":"2026-07-20T11:32:08.936438Z","clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}