{"id":"W2969858869","doi":"10.17724/jicna.2019.172","title":"Position Statement:Emerging genetic therapies for rare disorders","year":2019,"lang":"en","type":"article","venue":"Journal of the International Child Neurology Association","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Position statement; Position paper; Position (finance); Risk analysis (engineering); Rare disease; Medicine; Business; Disease; Intensive care medicine; Family medicine; Pathology; Finance","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":[],"consensus_categories":[],"category_scores_codex":[0.0003408849,0.00007121661,0.0001362376,0.0001143495,0.00007221068,0.00001839383,0.0001958793,0.00006259387,0.0001116237],"category_scores_gemma":[0.0002628823,0.00005111057,0.0002274235,0.00006834009,0.00001432355,0.000067579,0.00003597995,0.0002640043,0.000007058082],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001024604,"about_ca_system_score_gemma":0.00006474726,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002775863,"about_ca_topic_score_gemma":0.00000705027,"domain_scores_codex":[0.9988728,0.00009344908,0.0003008787,0.0001021597,0.000496567,0.0001342069],"domain_scores_gemma":[0.9990211,0.0001384044,0.0004469562,0.00009411464,0.0002703386,0.00002904732],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001213359,0.0002974551,0.9697258,0.0000360685,0.0009674209,0.000005973314,0.0003506655,0.001204244,0.01299104,0.0003418263,0.005520145,0.00734598],"study_design_scores_gemma":[0.003748785,0.0008309215,0.8922887,0.00003923088,0.0001155034,0.0001621532,0.00004288139,0.001183935,0.001604587,0.002301297,0.09760404,0.00007790321],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8602867,0.0002046881,0.0002849902,0.1371844,0.001134809,0.0003699482,0.000006887105,0.000004933096,0.0005226433],"genre_scores_gemma":[0.9939256,0.0003375348,0.00009939713,0.004697368,0.00022884,0.000006778082,0.000006625086,0.00001407999,0.0006837457],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1336389,"threshold_uncertainty_score":0.2084229,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005471973449958671,"score_gpt":0.2698660789726892,"score_spread":0.2643941055227305,"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."}}