{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002304349,0.0002397892,0.0002685852,0.00008559925,0.0001291201,0.00004196483,0.0002198707,0.0001460992,0.000003613233],"category_scores_gemma":[0.000329847,0.0002423208,0.0001309505,0.00008160595,0.00005896963,0.000001853756,0.0009743877,0.0001495766,0.00000187306],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009093151,"about_ca_system_score_gemma":0.00008845793,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001514369,"about_ca_topic_score_gemma":0.0001412092,"domain_scores_codex":[0.9985211,0.00005886429,0.000399876,0.0006358483,0.0001791642,0.0002051217],"domain_scores_gemma":[0.9990395,0.00001783223,0.0002727977,0.0004224655,0.0001072563,0.000140171],"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":[0.00009381078,0.0000849268,0.07210395,0.0002520284,0.0001552925,0.00001088992,0.00006116526,0.00533356,0.9208233,0.00001962533,0.00002439957,0.001037044],"study_design_scores_gemma":[0.0008932801,0.0001814251,0.869009,0.0003616165,0.0004289816,0.000009926346,0.0002308888,0.01721758,0.1061891,0.0001250224,0.004455517,0.000897654],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9850758,0.003127673,0.01039348,0.0001499406,0.0004611294,0.0002771233,0.0004793464,0.00002818339,0.000007377467],"genre_scores_gemma":[0.995553,0.002224519,0.001255822,0.00005266113,0.0003384334,0.0000356261,0.0003614323,0.00005245279,0.0001260732],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8146342,"threshold_uncertainty_score":0.9881554,"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."}}