{"id":"W2606342807","doi":"10.1002/mdc3.12501","title":"Genetic Identification in Early Onset Parkinsonism among Norwegian Patients","year":2017,"lang":"en","type":"article","venue":"Movement Disorders Clinical Practice","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Canadian Institutes of Health Research; Leading Edge Endowment Fund; Canada Excellence Research Chairs, Government of Canada","keywords":"Parkinsonism; Age of onset; Compound heterozygosity; Glucocerebrosidase; Medicine; Dystonia; Internal medicine; Cohort; LRRK2; Pediatrics; Disease; Parkinson's disease; Genetics; Biology; Phenotype; Psychiatry; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0003216113,0.0003693212,0.0002980389,0.0007329101,0.0006529982,0.000497766,0.0002544857,0.0002912062,0.002021152],"category_scores_gemma":[0.001054188,0.0002046181,0.0002876875,0.0007076113,0.000272033,0.0001855262,0.0004058694,0.0002279344,0.0002824673],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005449243,"about_ca_system_score_gemma":0.0006174407,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.04157319,"about_ca_topic_score_gemma":0.03921651,"domain_scores_codex":[0.9997638,0.00004249607,0.00002767673,0.00007459943,0.0000401465,0.00005136623],"domain_scores_gemma":[0.9996189,0.0001075356,0.0001146476,0.00001965265,0.00006210504,0.0000771799],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002559943,0.00006279683,0.9856424,0.00003090622,0.00002481871,0.004667403,0.0009615527,0.0001278539,0.002776092,0.00009727712,0.0004757335,0.004877117],"study_design_scores_gemma":[0.00002298145,0.0001348967,0.9932417,0.0000333883,0.00003556641,0.003810835,0.0008159432,0.0002306098,0.0003167782,0.0000770753,0.00126628,0.00001385723],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987317,0.0001833535,0.00008033601,0.00002996243,0.000009570213,0.000007763066,0.0003934202,0.000003598625,0.0005604292],"genre_scores_gemma":[0.9986134,0.0001771149,0.0001544372,0.00002619332,0.000007372274,0.00001044234,0.0005045117,0.000003795312,0.0005028351],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04157319,"threshold_uncertainty_score":0.0826624,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02782233797943472,"score_gpt":0.3544017519650012,"score_spread":0.3265794139855665,"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."}}