{"id":"W4393409510","doi":"10.1101/2024.03.27.586821","title":"Genome-wide association study of glucocerebrosidase activity modifiers","year":2024,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"National Center for Research Resources; National Institutes of Health; Canada First Research Excellence Fund; Consortium canadien en neurodégénérescence associée au vieillissement; McGill University; Fonds de Recherche du Québec - Santé; Michael J. Fox Foundation for Parkinson's Research","keywords":"Glucocerebrosidase; Cohort; Genome-wide association study; Single-nucleotide polymorphism; Genetic association; Biology; Parkinson's disease; Genetics; Disease; Internal medicine; Oncology; Gene; Medicine; 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":[0.001004359,0.0004323835,0.0004553205,0.001058421,0.0006748246,0.000710369,0.0005516704,0.0007108237,0.002665864],"category_scores_gemma":[0.002397446,0.0002709652,0.000832474,0.001975946,0.0003653942,0.0001655623,0.0004685844,0.0008835647,0.0002024135],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002539648,"about_ca_system_score_gemma":0.0004012639,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0204173,"about_ca_topic_score_gemma":0.01730732,"domain_scores_codex":[0.9991731,0.0002583428,0.00006267446,0.0002976007,0.0001185222,0.00008978593],"domain_scores_gemma":[0.9983121,0.0006719216,0.0003823424,0.0001850754,0.0001893618,0.0002591433],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009859744,0.00007598357,0.989852,0.00003487531,0.001490337,0.0004094123,0.00007992416,0.0001997032,0.003616774,0.000100728,0.0003958792,0.002758383],"study_design_scores_gemma":[0.00005125991,0.00007671438,0.9981703,0.000008990764,0.0004677443,0.0001736677,0.00004389496,0.0004745845,0.0002173884,0.0000637564,0.0002463662,0.000005324718],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977646,0.000659603,0.0002989757,0.0001165095,0.0000204649,0.000009613501,0.0006799262,0.00001406804,0.0004362794],"genre_scores_gemma":[0.9987276,0.0001730542,0.0002589489,0.00003521129,0.00001556691,0.000009180614,0.000481738,0.000005619109,0.0002930156],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0204173,"threshold_uncertainty_score":0.0405969,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02099036093725593,"score_gpt":0.2685964933547174,"score_spread":0.2476061324174614,"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."}}