{"id":"W4382198075","doi":"10.1101/2023.06.20.23291658","title":"Identification of novel variants, genes and pathways potentially linked to Parkinson’s disease using machine learning","year":2023,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Studies on Chitinases and Chitosanases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Hôpital du Sacré-Cœur de Montréal; McGill University; Montreal Neurological Institute and Hospital","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; National Institutes of Health; Canada First Research Excellence Fund; Consortium canadien en neurodégénérescence associée au vieillissement; Killam Trusts; McGill University; Celgene; Sanofi; GlaxoSmithKline; Pfizer; National Institute of Neurological Disorders and Stroke; Verily Life Sciences; Bristol-Myers Squibb; Michael J. Fox Foundation for Parkinson's Research; Foundation for the National Institutes of Health","keywords":"Genome-wide association study; LRRK2; Gene; Locus (genetics); Biology; Parkinson's disease; Genetics; Candidate gene; Computational biology; Biological pathway; Epigenomics; Genetic association; Transcriptome; Single-nucleotide polymorphism; Disease; Gene expression; Medicine; Mutation; 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":[0.001099878,0.0005321012,0.0004890679,0.001116333,0.0002327077,0.0008221869,0.0002988144,0.0004616494,0.001943215],"category_scores_gemma":[0.001313714,0.0001767293,0.0009621841,0.0007848821,0.0002314793,0.0002935679,0.0002925313,0.0006266386,0.000503109],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002974541,"about_ca_system_score_gemma":0.0003629707,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001033147,"about_ca_topic_score_gemma":0.001127562,"domain_scores_codex":[0.9996051,0.000145561,0.00002410362,0.0001320889,0.00005097289,0.00004218236],"domain_scores_gemma":[0.9994134,0.0003420391,0.0001033351,0.00006178352,0.00004069637,0.00003880765],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.001359284,0.0006611469,0.4527117,0.0005781736,0.002272592,0.001123099,0.0001053977,0.1336718,0.09421465,0.003478458,0.005533393,0.3042904],"study_design_scores_gemma":[0.00009956244,0.000212053,0.09980335,0.00006434332,0.0002720637,0.0004956058,0.00004622055,0.8753037,0.013185,0.007849595,0.002632525,0.00003588537],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7783569,0.003583158,0.2093474,0.001418818,0.0001382985,0.0001009764,0.003500003,0.001631822,0.001922627],"genre_scores_gemma":[0.9397984,0.0004827926,0.05563407,0.0001436912,0.00006240056,0.00004912316,0.002804062,0.00004051183,0.0009849804],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001943215,"threshold_uncertainty_score":0.006500661,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0411770176146491,"score_gpt":0.2772486000526175,"score_spread":0.2360715824379684,"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."}}