{"id":"W3040473777","doi":"10.1101/2020.07.06.185066","title":"Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture","year":2020,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"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":"National Center for Advancing Translational Sciences; Demensförbundet; National Heart, Lung, and Blood Institute; Instituto de Salud Carlos III; Alzheimer's Society; Canadian Institutes of Health Research; National Institutes of Health; University of Toronto; Charles F. and Joanne Knight Alzheimer Disease Research Center, Washington University in St. Louis; Newcastle University; European Regional Development Fund; King's College London; National Institute on Aging; National Institute for Health and Care Research; Medical Research Council; Verily Life Sciences; Ministero della Salute; Sol Goldman Charitable Trust; College of Pharmacy, University of Michigan; National Institute of Neurological Disorders and Stroke; Sunovion; Arizona Biomedical Research Commission; Georgia Clinical and Translational Science Alliance; Wellcome Trust; Broad Institute; Sanofi; South London and Maudsley NHS Foundation Trust; COPD Foundation; Mayo Clinic; University of Michigan; Massachusetts General Hospital; Little Family Foundation; Ministero dell’Istruzione, dell’Università e della Ricerca; Johns Hopkins University; Brigham and Women's Hospital; Arizona Department of Health Services; National Human Genome Research Institute; Celgene; National Institute on Minority Health and Health Disparities; AstraZeneca; Jackson State University; Mississippi State Department of Health; Michael J. Fox Foundation for Parkinson's Research; Consortium canadien en neurodégénérescence associée au vieillissement; American Parkinson Disease Association; Northwestern University; Pfizer; Foundation for the National Institutes of Health; American Heart Association; Center for Individualized Medicine, Mayo Clinic; Lewy Body Dementia Association","keywords":"Genetic architecture; Lewy body; Dementia; Genome-wide association study; Biology; Disease; Genetics; Genome; Dementia with Lewy bodies; Genetic association; Computational biology; Gene; Evolutionary biology; Quantitative trait locus; Medicine; Single-nucleotide polymorphism; Genotype; Pathology","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":[0.0006351652,0.0003868293,0.0002408118,0.0008607776,0.0002689214,0.0006489241,0.0001669771,0.0004139756,0.002393402],"category_scores_gemma":[0.0005823769,0.0001635269,0.0002264063,0.0007124334,0.0002077004,0.0001571918,0.0003273361,0.000408141,0.0005842266],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001461439,"about_ca_system_score_gemma":0.0002437424,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001150958,"about_ca_topic_score_gemma":0.002372355,"domain_scores_codex":[0.9998322,0.00003062634,0.000009584907,0.00005689318,0.00005012305,0.00002055738],"domain_scores_gemma":[0.999754,0.0001182475,0.0000405223,0.00002685102,0.00002533587,0.00003497852],"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":[0.0008713716,0.0002386507,0.2036845,0.0003978279,0.0007519699,0.005504978,0.0007667551,0.006388039,0.6780011,0.007946454,0.01005662,0.0853917],"study_design_scores_gemma":[0.0001629983,0.0002528504,0.7497955,0.0001174784,0.0003987345,0.007116891,0.0005176356,0.03352334,0.1429373,0.02008319,0.04501918,0.00007485272],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9592716,0.001374921,0.02709632,0.0005754479,0.00009625869,0.00003031231,0.007055132,0.0005137713,0.003986254],"genre_scores_gemma":[0.9519499,0.001151759,0.0261208,0.0003437875,0.0000742891,0.00003298999,0.01644876,0.0001794573,0.003698243],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002393402,"threshold_uncertainty_score":0.008006692,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01129061699302097,"score_gpt":0.2051913894454286,"score_spread":0.1939007724524077,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}