{"id":"W3128153416","doi":"10.1038/s41588-021-00785-3","title":"Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture","year":2021,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":481,"is_retracted":false,"has_abstract":true,"ca_institutions":"Heart and Stroke Foundation; Sunnybrook Health Science Centre; Occupational Cancer Research Centre; Health Sciences Centre; McGill University; Montreal Neurological Institute and Hospital; University of Toronto","funders":"Administration for Native Americans; Takeda Pharmaceuticals U.S.A.; National Human Genome Research Institute; Demensförbundet; National Heart, Lung, and Blood Institute; National Institute of Neurological Disorders and Stroke; Department of Medicine, University of Toronto; King's College London; Centre National de la Recherche Scientifique; European Regional Development Fund; National Center for Advancing Translational Sciences; Medical Research Council; University at Buffalo; National Institutes of Health; Instituto de Investigación Marqués de Valdecilla; H. Lundbeck A/S; University of Bristol; Idorsia Pharmaceuticals; Johns Hopkins University; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas; Imperial College London; University of Toronto; Institut National de la Santé et de la Recherche Médicale; Parkinson's UK; Charles F. and Joanne Knight Alzheimer Disease Research Center, Washington University in St. Louis; Newcastle University; National Institute on Aging; National Institute for Health and Care Research; Biogen; Agence Nationale de la Recherche; Sol Goldman Charitable Trust; American Parkinson Disease Association; Consortium canadien en neurodégénérescence associée au vieillissement; Prothena; Northwestern University; Sunnybrook Research Institute; Little Family Foundation; Center for Individualized Medicine, Mayo Clinic; Institute of Psychiatry, Psychology and Neuroscience, King’s College London; Lewy Body Dementia Association; Wellcome Trust; Feinberg School of Medicine; Virginia Commonwealth University; Eli Lilly and Company; Sorbonne Université; Theravance Biopharma US; U.S. Department of Health and Human Services; Foundation for the National Institutes of Health","keywords":"Biology; Genetic architecture; Computational biology; Lewy body; Genome-wide association study; Genetics; Genome; DNA sequencing; Dementia; Evolutionary biology; Gene; Quantitative trait locus; Disease; Single-nucleotide polymorphism; Genotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00005015379,0.0002725397,0.0003471192,0.0001704462,0.000230851,0.000208725,0.0002682818,0.0002606575,0.00005720787],"category_scores_gemma":[0.0005234092,0.0002089992,0.0001250667,0.001272928,0.0001094421,0.00006696946,0.0002086381,0.0005403446,0.000004798042],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002868147,"about_ca_system_score_gemma":0.0002101842,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001170565,"about_ca_topic_score_gemma":0.0002656887,"domain_scores_codex":[0.9978286,0.0002217519,0.0002543187,0.0008194803,0.0005021985,0.0003736246],"domain_scores_gemma":[0.9989637,0.0001132432,0.0001433778,0.000353996,0.0001428593,0.000282803],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00003248484,0.00006903912,0.004327729,0.00004707474,0.000352002,0.0004781286,0.0005900869,0.003033697,0.9892699,0.000126533,0.00003799823,0.001635388],"study_design_scores_gemma":[0.0009654984,0.0002381678,0.6103485,0.00002679356,0.00345189,0.00004594825,0.00007429346,0.001745589,0.3650743,0.007432186,0.009853191,0.0007435674],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9644912,0.03404819,0.0005937149,0.0003203709,0.0001209838,0.0002319779,0.00001900814,0.00006782453,0.0001066735],"genre_scores_gemma":[0.9946829,0.001479544,0.0007453153,0.002324455,0.0001409226,0.000008239102,0.00002667716,0.00002725117,0.0005646952],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6241955,"threshold_uncertainty_score":0.8522738,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01424445954258781,"score_gpt":0.2468389960330995,"score_spread":0.2325945364905117,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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