{"id":"W4321021688","doi":"10.1016/b978-0-323-85555-6.00016-3","title":"Genetic mechanism vs genetic subtypes: The example of GBA","year":2023,"lang":"en","type":"review","venue":"Handbook of clinical neurology","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"","keywords":"Glucocerebrosidase; Phenotype; LRRK2; Disease; Biology; Neuroinflammation; Genotype; Mechanism (biology); Genetics; Endoplasmic reticulum; Bioinformatics; Gene; Medicine; Mutation; Internal medicine","routes":{"ca_aff":true,"ca_fund":false,"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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001242538,0.0004055309,0.004164261,0.0002510141,0.00005323132,0.000006760199,0.0008595334,0.0009834981,0.0004344401],"category_scores_gemma":[0.002801114,0.0002551046,0.001392705,0.0004575533,0.0008876969,0.00001180261,0.0004938596,0.001498295,0.0004280472],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001077297,"about_ca_system_score_gemma":0.0008953519,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002536583,"about_ca_topic_score_gemma":0.00005703199,"domain_scores_codex":[0.9936373,0.001532156,0.002799305,0.000823224,0.0006569504,0.0005510414],"domain_scores_gemma":[0.9914919,0.005606147,0.0009937703,0.001445352,0.0002287139,0.0002340984],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0007671971,0.0005510224,0.001025053,0.02402206,0.001029602,0.0007425022,0.00004949542,0.000002167271,0.00001000807,0.0003793038,0.002429947,0.9689916],"study_design_scores_gemma":[0.001592688,0.005368993,0.002627449,0.003800721,0.00198225,0.0003028311,0.000002776192,0.0000567982,0.000009888619,0.001490605,0.9825066,0.0002584049],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.001903886,0.9947031,0.0001910593,0.000252476,0.000622395,0.001974016,0.00003220019,0.00005112374,0.0002697481],"genre_scores_gemma":[0.0001221556,0.9976613,0.0003195606,0.000559942,0.0004342268,0.000126366,0.00002278703,0.0001363786,0.0006172917],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9800767,"threshold_uncertainty_score":0.9999901,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2479291431514133,"score_gpt":0.4595634429281448,"score_spread":0.2116342997767315,"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."}}