{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004352302,0.0004723298,0.0003558475,0.001468841,0.0003773934,0.0005649083,0.0002364785,0.0004759518,0.0009797679],"category_scores_gemma":[0.0006595087,0.0001728004,0.0003373252,0.0008880041,0.000215596,0.0001926205,0.0003847134,0.0003947208,0.000224244],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001918181,"about_ca_system_score_gemma":0.0002738496,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002300608,"about_ca_topic_score_gemma":0.008450336,"domain_scores_codex":[0.999804,0.00003130137,0.00001708741,0.00008268248,0.00004351754,0.00002151492],"domain_scores_gemma":[0.9995337,0.0001847498,0.0001405033,0.00003624927,0.00004948351,0.00005538202],"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":[0.001319241,0.0002341217,0.4076684,0.000499083,0.001402874,0.005989579,0.001063846,0.003103883,0.4791438,0.002174685,0.001687332,0.09571318],"study_design_scores_gemma":[0.00005745756,0.0003014344,0.9483141,0.00009317481,0.0004896102,0.005938238,0.0002979224,0.00347952,0.02976625,0.002296943,0.008915698,0.00004968352],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9840429,0.00216003,0.009254843,0.0002748131,0.00003018064,0.00003294663,0.002748691,0.0000999014,0.001355544],"genre_scores_gemma":[0.9789243,0.002140143,0.01169103,0.0003183308,0.00003992711,0.00003081638,0.005845234,0.00003678009,0.0009735142],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002300608,"threshold_uncertainty_score":0.004574478,"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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