{"doi":"10.1002/alz.70237","title":"Alzheimer's Disease Sequencing Project release 4 whole genome sequencing dataset","abstract":"INTRODUCTION: The Alzheimer's Disease Sequencing Project (ADSP) is a national initiative to understand the genetic architecture of Alzheimer's disease and related dementias (ADRD) by integrating whole genome sequencing (WGS) with other genetic, phenotypic, and harmonized datasets from diverse populations. METHODS: The Genome Center for Alzheimer's Disease (GCAD) uniformly processed WGS from 36,361 ADSP samples, including 35,014 genetically unique participants of which 45% are from non-European ancestry, across 17 cohorts in 14 countries in this fourth release (R4). RESULTS: This sequencing effort identified 387 million bi-allelic variants, 42 million short insertions/deletions, and 6.8 million structural variants. Annotations and quality control data are available for all variants and samples. Additionally, detailed phenotypes from 15,927 participants across 10 domains are also provided. A linkage disequilibrium panel was created using unrelated AD cases and controls. DISCUSSION: Researchers can access and analyze the genetic data via the National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site (NIAGADS) Data Sharing Service, the VariXam, or NIAGADS GenomicsDB. HIGHLIGHTS: We detailed the genetic architecture and quality of the Alzheimer's Disease Sequencing Project release 4 whole genome sequences. We identified 435 million single nucleotide polymorphisms, insertions and deletions, and structural variants from diverse genomes. We harmonized extensive phenotypes, linkage disequilibrium reference panel on subset of samples. Data is publicly available at NIAGADS Data Storage Site, variants and annotations are browsable on two different websites.","journal":"Alzheimer s & Dementia","year":2025,"id":509708,"datarank":0.6294461561923734,"base_score":3.367295829986474,"endowment":3.367295829986474,"self_citation_contribution":0.5050943744979712,"citation_network_contribution":0.12435178169440218,"self_endowment_contribution":0.5050943744979712,"citer_contribution":0.12435178169440218,"corpus_percentile":68.55418890693896,"corpus_rank":4066,"citation_count":28,"citer_count":25,"citers_with_citation_signal":7,"citers_with_endowment":7,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.9501,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":58.3333,"fair_percentile":72.8829104249465,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":568260,"name":"Wan‐Ping Lee","orcid":"0000-0002-5305-1181","position":1,"is_corresponding":false},{"id":1162722,"name":"Amanda Kuzma","orcid":null,"position":2,"is_corresponding":false},{"id":936442,"name":"Heather Nicaretta","orcid":null,"position":3,"is_corresponding":false},{"id":60359,"name":"Otto Valladares","orcid":"0000-0001-8055-2187","position":4,"is_corresponding":false},{"id":569218,"name":"Prabhakaran Gangadharan","orcid":null,"position":5,"is_corresponding":false},{"id":613826,"name":"Liming Qu","orcid":"0000-0002-9240-8411","position":6,"is_corresponding":false},{"id":436239,"name":"Yi Zhao","orcid":"0000-0003-4766-5934","position":7,"is_corresponding":false},{"id":1328006,"name":"Youli Ren","orcid":null,"position":8,"is_corresponding":false},{"id":935872,"name":"Po‐Liang Cheng","orcid":"0009-0007-0046-0313","position":9,"is_corresponding":false},{"id":568259,"name":"Pavel P. Kuksa","orcid":"0000-0003-2248-6403","position":10,"is_corresponding":false},{"id":366764,"name":"Hui Wang","orcid":"0000-0003-4043-5060","position":11,"is_corresponding":false},{"id":1328007,"name":"Heather White","orcid":null,"position":12,"is_corresponding":false},{"id":569219,"name":"Živadin Katanić","orcid":null,"position":13,"is_corresponding":false},{"id":1328008,"name":"Lauren Bass","orcid":null,"position":14,"is_corresponding":false},{"id":1328352,"name":"Naveen Saravanan","orcid":null,"position":15,"is_corresponding":false},{"id":383487,"name":"Emily Greenfest‐Allen","orcid":"0000-0002-7294-8461","position":16,"is_corresponding":false},{"id":1328005,"name":"Maureen Kirsch","orcid":null,"position":17,"is_corresponding":false},{"id":455926,"name":"Laura B. Cantwell","orcid":null,"position":18,"is_corresponding":false},{"id":1162720,"name":"Taha Iqbal","orcid":null,"position":19,"is_corresponding":false},{"id":568263,"name":"Nicholas R. Wheeler","orcid":"0000-0003-2248-8919","position":20,"is_corresponding":false},{"id":1327881,"name":"John Farrell","orcid":"0000-0002-8726-5997","position":21,"is_corresponding":false},{"id":1364740,"name":"Congcong Zhu","orcid":"0000-0002-4035-1513","position":22,"is_corresponding":false},{"id":1365603,"name":"Shannon L. Turner","orcid":null,"position":23,"is_corresponding":false},{"id":686606,"name":"Tamil Iniyan Gunasekaran","orcid":"0000-0002-8639-5060","position":24,"is_corresponding":false},{"id":405035,"name":"Pedro Mena","orcid":"0000-0003-2150-2977","position":25,"is_corresponding":false},{"id":987482,"name":"Yumi Jin","orcid":"0000-0003-2499-8760","position":26,"is_corresponding":false},{"id":1191550,"name":"Luke Carter","orcid":null,"position":27,"is_corresponding":false},{"id":704155,"name":"Alzheimer's Disease Sequencing Project","orcid":null,"position":28,"is_corresponding":false},{"id":771454,"name":"Xiaoling Zhang","orcid":"0000-0001-8237-1857","position":29,"is_corresponding":false},{"id":63303,"name":"Badri N. Vardarajan","orcid":"0000-0002-5560-4085","position":30,"is_corresponding":false},{"id":51713,"name":"Arthur W. Toga","orcid":"0000-0001-7902-3755","position":31,"is_corresponding":false},{"id":40214,"name":"Michael L. Cuccaro","orcid":"0000-0003-4769-0785","position":32,"is_corresponding":false},{"id":254761,"name":"Timothy J. Hohman","orcid":"0000-0002-3377-7014","position":33,"is_corresponding":false},{"id":261839,"name":"William S. Bush","orcid":"0000-0002-9729-6519","position":34,"is_corresponding":false},{"id":54608,"name":"Adam C. Naj","orcid":"0000-0002-9621-2942","position":35,"is_corresponding":false},{"id":40736,"name":"Eden R. Martin","orcid":"0000-0002-4035-9152","position":36,"is_corresponding":false},{"id":241309,"name":"Clifton L. Dalgard","orcid":"0000-0003-2025-8239","position":37,"is_corresponding":false},{"id":256051,"name":"Brian W. Kunkle","orcid":"0000-0002-9515-5157","position":38,"is_corresponding":false},{"id":27609,"name":"Lindsay A. Farrer","orcid":"0000-0001-5533-4225","position":39,"is_corresponding":false},{"id":27608,"name":"Richard Mayeux","orcid":"0000-0001-6519-9696","position":40,"is_corresponding":false},{"id":6896,"name":"Jonathan L. Haines","orcid":"0000-0002-4351-4728","position":41,"is_corresponding":false},{"id":6903,"name":"Margaret A. Pericak‐Vance","orcid":"0000-0001-7283-8804","position":42,"is_corresponding":false},{"id":27607,"name":"Gerard D. Schellenberg","orcid":"0000-0003-1115-2475","position":43,"is_corresponding":false},{"id":261852,"name":"Li‐San Wang","orcid":"0000-0002-3684-0031","position":44,"is_corresponding":false},{"id":568264,"name":"Yuk Yee Leung","orcid":"0000-0002-3047-5440","position":0,"is_corresponding":true}],"reference_count":66,"raw_metadata":null,"created_at":"2026-07-19T02:47:30.942539Z","pmid":"40407102","pmcid":"PMC12100500","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":66.6667,"fair_a":68.75,"fair_i":60.0,"fair_r":66.6667,"fair_zscore":0.9454,"fair_rationale":{"fair_score":58.33,"has_llm":true,"taxonomy_version":"fair_taxonomy_v5","dimensions":{"F":{"name":"Findable","score":66.67,"criteria":[{"key":"f_dataset_pid","label":"Persistent identifier for the data","kind":"llm","weight":2.0,"fraction":0.5,"verdict":"partial","evidence":"https://dss.niagads.org/datasets/ng00067/","grounded":true,"rationale":"The strongest identifier given is a web URL, which is not a persistent-identifier scheme (class 2). 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Only a reference- list entry is machine-readable to Crossref/DataCite, and only a citation lets the data earn credit. Cite the neuroimaging repository accession (e.g. from OpenNeuro or NeuroVault) in the reference list.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":"The ADSP R4 dataset of > 347 million variants is available to qualified investigators at https://dss.niagads.org/datasets/ng00067/","why":"The dataset identifier (ng00067) appears only in the body text, not in the reference list. [downgraded to 'no' — no verifiable quote from the paper] [majority verdict 'no' (4/5 passes agreed)]","gain":8.33,"priority":"important","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). 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[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.","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. For neuroimaging data, deposit in OpenNeuro or NeuroVault.","Remove the precondition or justify it. 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