{"id":"W4401833050","doi":"10.1038/s41531-025-01245-z","title":"Genome-wide association study of copy number variations in Parkinson’s disease","year":2024,"lang":"en","type":"preprint","venue":"npj Parkinson s Disease","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ontario Brain Institute; Toronto Western Hospital; Occupational Cancer Research Centre; University of Toronto","funders":"Medical Research Council; Ministerio de Ciencia e Innovación; Multiple Sclerosis Society of Western Australia; Universiteit Stellenbosch; Vetenskapsrådet; Ministero della Salute; Association France Parkinson; Agence Nationale de la Recherche; South African Medical Research Council; Deutsche Forschungsgemeinschaft; Eesti Teadusagentuur; National Research Foundation; Parkinson's UK; Department of Science and Technology, Ministry of Science and Technology, India; Multiple System Atrophy Coalition; Consortium canadien en neurodégénérescence associée au vieillissement; Faculty of Medicine and Health, University of Sydney; Karolinska Institutet; EU Joint Programme – Neurodegenerative Disease Research; Michael J. Fox Foundation for Parkinson's Research; National Institutes of Health; U.S. Department of Health and Human Services","keywords":"Copy-number variation; Genetics; Disease; Genome-wide association study; Parkinson's disease; Biology; Genetic association; Genome; Pathogenesis; Computational biology; Gene; Single-nucleotide polymorphism; Medicine; 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":[0.00119915,0.0004035583,0.0006217276,0.00154825,0.000389377,0.0007226081,0.0003692473,0.0004045775,0.002026235],"category_scores_gemma":[0.005355917,0.0001573063,0.0006612549,0.002278679,0.0002727271,0.0003239954,0.0005464705,0.0004301434,0.0001638639],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002091011,"about_ca_system_score_gemma":0.0002645242,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003414614,"about_ca_topic_score_gemma":0.003417646,"domain_scores_codex":[0.9984864,0.0003815223,0.0001297556,0.000677345,0.0002225933,0.0001023454],"domain_scores_gemma":[0.9973443,0.001381492,0.0006710801,0.0002187351,0.0001822697,0.0002021706],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008491065,0.00004231817,0.9771345,0.0000908779,0.002266511,0.0004210632,0.00006456678,0.0005452826,0.006991021,0.0001833452,0.0005289323,0.01088239],"study_design_scores_gemma":[0.00004258513,0.0000868171,0.9967434,0.00001518139,0.0004190171,0.0004598848,0.00003257564,0.0009566002,0.0004321788,0.0002611297,0.0005441158,0.000006632099],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9935374,0.002125299,0.001269183,0.00015463,0.00002847905,0.00001528336,0.002268338,0.00003756591,0.000563862],"genre_scores_gemma":[0.9974801,0.0003704992,0.00054491,0.000042157,0.00002849256,0.00001195013,0.001374491,0.000008379417,0.0001389947],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003414614,"threshold_uncertainty_score":0.006789446,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01091526738812441,"score_gpt":0.2539418435802614,"score_spread":0.243026576192137,"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."}}