{"id":"W3134349926","doi":"10.21203/rs.3.rs-101211/v1","title":"Exome Sequencing in Paediatric Patients with Movement Disorders with Treatment Possibilities","year":2020,"lang":"en","type":"preprint","venue":"Research Square","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Princess Margaret Cancer Centre","funders":"","keywords":"Exome sequencing; Movement disorders; Exome; Medicine; Genetics; Biology; Mutation; Disease; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002643832,0.0004645094,0.0003966835,0.0004973782,0.0005314243,0.0005649514,0.0002600518,0.001003393,0.006583513],"category_scores_gemma":[0.002496243,0.0001773177,0.000292037,0.0007192193,0.0002590542,0.0003196055,0.0005252162,0.0004358005,0.0008422281],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000245413,"about_ca_system_score_gemma":0.0003801017,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001500362,"about_ca_topic_score_gemma":0.001150172,"domain_scores_codex":[0.9997643,0.00004805487,0.00002531271,0.00007394767,0.00004054858,0.00004794245],"domain_scores_gemma":[0.9995769,0.0002298192,0.00006775824,0.00003617017,0.00003563462,0.00005368099],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005158455,0.0002291369,0.6538309,0.0005666986,0.0002767848,0.1259004,0.002727377,0.003822038,0.04264959,0.004813507,0.01913106,0.140894],"study_design_scores_gemma":[0.0002769912,0.0004105224,0.7210755,0.0004101769,0.0003677027,0.2182214,0.001791145,0.003692911,0.01228992,0.009896668,0.03149549,0.000071621],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9837071,0.001891744,0.001420522,0.0006168266,0.00004862282,0.00003347469,0.006118259,0.00004689135,0.006116513],"genre_scores_gemma":[0.9888813,0.001253135,0.002136714,0.0002409215,0.00005320905,0.00004360824,0.005302907,0.000064725,0.002023515],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006583513,"threshold_uncertainty_score":0.02202404,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02805833591956647,"score_gpt":0.2967784104602562,"score_spread":0.2687200745406897,"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."}}