{"id":"W3139647899","doi":"10.1212/wnl.94.15_supplement.4446","title":"Family-Based Genome Analysis Identifies Clinically Relevant de novo Variants in Pediatric Dystonia (4446)","year":2020,"lang":"en","type":"article","venue":"Neurology","topic":"Neurological disorders and treatments","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Thursday; Dystonia; Medicine; Pediatrics; Oncology; Psychiatry","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000229168,0.0003536075,0.0002488006,0.001274374,0.0003493192,0.0005071022,0.0001603824,0.0004577006,0.003870843],"category_scores_gemma":[0.0007497458,0.0001586937,0.0004376443,0.0008614931,0.000226331,0.0001381128,0.0003188921,0.0002999541,0.0004127338],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001996038,"about_ca_system_score_gemma":0.000180619,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003491236,"about_ca_topic_score_gemma":0.007480698,"domain_scores_codex":[0.9997758,0.0000376436,0.00001341617,0.0000917024,0.00005193677,0.00002943335],"domain_scores_gemma":[0.9997723,0.0001164921,0.00004715352,0.00001753192,0.00001656173,0.00002991626],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009626074,0.0001678506,0.6257333,0.0001879364,0.0005605549,0.02116387,0.001064522,0.00286165,0.2693613,0.001228995,0.004162244,0.07254523],"study_design_scores_gemma":[0.00002892995,0.000213364,0.9396001,0.00003412384,0.0002138433,0.02548526,0.0002660973,0.002613556,0.0247578,0.0004298019,0.006332838,0.00002427009],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9914308,0.0007856505,0.003041359,0.0001707465,0.0000208022,0.00001808707,0.002261,0.0001196683,0.002151793],"genre_scores_gemma":[0.9945086,0.0004258917,0.003273137,0.0001139608,0.00001212952,0.000008548913,0.00102518,0.00003239812,0.00060029],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003870843,"threshold_uncertainty_score":0.01294929,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0293063716281991,"score_gpt":0.2913813382012642,"score_spread":0.2620749665730651,"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."}}