{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002096712,0.0003350064,0.000213177,0.0001275193,0.0002914283,0.0001060516,0.000477421,0.0001130515,0.00005953197],"category_scores_gemma":[0.00004529586,0.0003389548,0.0001721815,0.0002012968,0.0001074037,0.00001798926,0.0004292872,0.0001195997,0.00006785799],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001321453,"about_ca_system_score_gemma":0.000977097,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002009564,"about_ca_topic_score_gemma":0.00004094625,"domain_scores_codex":[0.9980436,0.0001003776,0.0003839797,0.0007740605,0.0001809181,0.0005170855],"domain_scores_gemma":[0.9986002,0.00001181091,0.0001253233,0.000935011,0.00009651079,0.0002310803],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0005121493,0.00030847,0.004186838,0.00007246132,0.02898139,0.00041741,0.0001379093,0.001268065,0.8619208,0.0007290188,0.09294398,0.008521455],"study_design_scores_gemma":[0.001421565,0.0001851218,0.004767219,0.00007538861,0.02672587,0.00003182402,0.0004302284,0.0004175809,0.09895998,0.000303928,0.8653736,0.001307703],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.257726,0.719514,0.00229616,0.00082683,0.001284869,0.002983458,0.01144455,0.0001428928,0.003781173],"genre_scores_gemma":[0.9824677,0.0002925507,0.00105527,0.001506118,0.0002120727,0.0001643865,0.01421259,0.00004535132,0.00004391966],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.7724296,"threshold_uncertainty_score":0.9999062,"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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