{"id":"W4410695240","doi":"10.1002/alz.70237","title":"Alzheimer's Disease Sequencing Project release 4 whole genome sequencing dataset","year":2025,"lang":"en","type":"article","venue":"Alzheimer s & Dementia","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Reta Lila Weston Institute of Neurological Studies, UCL Queen Square Institute of Neurology,University College London; National Center for Research Resources; National Institute of Environmental Health Sciences; National Institute of Biomedical Imaging and Bioengineering; National Human Genome Research Institute; National Institute on Drug Abuse; National Heart, Lung, and Blood Institute; National Institute on Aging; Medical Research Council; Canadian Institutes of Health Research; Tau Consortium; Uniformed Services University of the Health Sciences; Victorian Brain Bank; University of Pennsylvania; Austrian Science Fund; Medizinische Universität Graz; H. Lundbeck A/S; National Institute of Neurological Disorders and Stroke; Deutsches Zentrum für Neurodegenerative Erkrankungen; Alzheimer's Drug Discovery Foundation; National Institutes of Health; Österreichische Forschungsförderungsgesellschaft; Oesterreichische Nationalbank; University of Toronto; Sociale en Geesteswetenschappen, NWO; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; European Commission; Genentech; Erasmus Medisch Centrum; Baylor College of Medicine; Department of Internal Medicine, University of Utah; EU Joint Programme – Neurodegenerative Disease Research; GE Healthcare; European Research Council; Northern California Institute for Research and Education; Novartis Pharmaceuticals Corporation; U.S. Department of Health and Human Services; Mayo Clinic; Fujirebio US; Arizona Department of Health Services; Alzheimer's Association; Biogen; University of Miami; CurePSP; BioClinica; Alzheimer's Disease Neuroimaging Initiative; Eli Lilly and Company; Wellcome Trust; University of Southern California; Merck; Ministry of Education; Framingham Heart Study; Takeda Pharmaceutical Company; Case Western Reserve University; Rainwater Charitable Foundation; GHR Foundation; AbbVie","keywords":"Linkage disequilibrium; Genetics; Genome; Whole genome sequencing; Reference genome; Biology; DNA sequencing; Genetic architecture; 1000 Genomes Project; Computational biology; Genome-wide association study; Genomics; Genetic association; Allele; Phenotype; Single-nucleotide polymorphism; Haplotype; Genotype; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003674015,0.00189105,0.002000232,0.003097364,0.00150513,0.002400255,0.003205307,0.002171764,0.02903152],"category_scores_gemma":[0.009643716,0.001096043,0.001523065,0.006640864,0.0004510936,0.0009640951,0.002247798,0.002344724,0.02552532],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001161097,"about_ca_system_score_gemma":0.003428683,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0242581,"about_ca_topic_score_gemma":0.03390626,"domain_scores_codex":[0.9974574,0.0004292754,0.0005274666,0.000948825,0.0004196093,0.0002174367],"domain_scores_gemma":[0.9969279,0.0007575399,0.0003833214,0.0007180505,0.0008355185,0.0003777693],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0009628345,0.00007967856,0.01039971,0.001373713,0.00044446,0.0003732542,0.0001705894,0.0008858219,0.002146054,0.001124522,0.9739268,0.008112449],"study_design_scores_gemma":[0.003115551,0.0002286537,0.05936235,0.0008383194,0.0007215702,0.000893162,0.0002159038,0.001289601,0.002090492,0.006290098,0.9248081,0.0001462975],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"dataset","genre_scores_codex":[0.00162687,0.0001326484,0.0006681489,0.000127785,0.00003476876,0.00008049444,0.9960606,0.0002980214,0.0009707293],"genre_scores_gemma":[0.001056689,0.00006060762,0.0008953887,0.0001027949,0.00001504749,0.0002828159,0.997168,0.00007647768,0.0003422016],"genre_candidate":"dataset","genre_consensus":"dataset","teacher_disagreement_score":0.02903152,"threshold_uncertainty_score":0.09712011,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02565639078113442,"score_gpt":0.2799854130529221,"score_spread":0.2543290222717877,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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