{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008423161,0.0002392802,0.0003716534,0.00009917729,0.0003416244,0.0001921889,0.0002931991,0.0001692248,0.00007735504],"category_scores_gemma":[0.00349465,0.0002285844,0.0001735078,0.00008974523,0.0001704135,0.0006509221,0.000138881,0.0003527686,0.0002496002],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001026802,"about_ca_system_score_gemma":0.00009401461,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001067101,"about_ca_topic_score_gemma":0.0003687734,"domain_scores_codex":[0.9972384,0.0002449519,0.0008865288,0.000677566,0.0005696238,0.0003829214],"domain_scores_gemma":[0.9972985,0.0003024513,0.0008097221,0.001143153,0.0001409774,0.0003052456],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004506819,0.00447871,0.9394503,0.00001896485,0.0001552003,0.00007452097,0.00008946713,0.000001978922,0.000004307988,0.00004414914,0.0005987771,0.05463291],"study_design_scores_gemma":[0.006175315,0.000542328,0.9729259,0.00005804865,0.000295345,4.007836e-7,0.00008401192,0.0001461415,0.00001666615,0.002294689,0.01725458,0.0002065612],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99099,0.00008044612,0.0002623195,0.002533879,0.0006366828,0.001088885,0.00002923438,0.00003889906,0.0043396],"genre_scores_gemma":[0.995015,0.0006244972,0.001077984,0.002492,0.00007606213,0.0001320432,0.00005770355,0.00003711063,0.0004875593],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05442635,"threshold_uncertainty_score":0.9321401,"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."}}