{"id":"W4225893775","doi":"10.5334/tohm.678","title":"Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice","year":2022,"lang":"en","type":"letter","venue":"Tremor and Other Hyperkinetic Movements","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre for Movement Disorders","funders":"","keywords":"Exome sequencing; Clinical Practice; Exome; Medicine; Computational biology; Genetics; Biology; Mutation; Family medicine; Gene","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":[0.002160568,0.0009106377,0.001200714,0.001317425,0.001663026,0.001994669,0.001375658,0.02319369,0.002332508],"category_scores_gemma":[0.01870385,0.0006519682,0.0009606667,0.0009177208,0.00196965,0.002467998,0.0008505418,0.01220005,0.00230112],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002270754,"about_ca_system_score_gemma":0.001872707,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00522754,"about_ca_topic_score_gemma":0.008500783,"domain_scores_codex":[0.9977599,0.000745084,0.0003871827,0.0003034196,0.0005811171,0.0002231901],"domain_scores_gemma":[0.9926223,0.004700397,0.0003669714,0.0002201036,0.001045132,0.001045175],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000386208,0.0001593397,0.01433671,0.0002573954,0.00007247629,0.08219237,0.000268143,0.0006827829,0.002142033,0.004149641,0.8257232,0.06962971],"study_design_scores_gemma":[0.001090589,0.0005198166,0.04109307,0.002384641,0.0002568821,0.3400781,0.00115763,0.009292952,0.00155863,0.0564092,0.5459009,0.0002576131],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"editorial","genre_scores_codex":[0.004702766,0.008069043,0.001354293,0.9572363,0.0151799,0.00004773032,0.0001735695,0.000122992,0.01311341],"genre_scores_gemma":[0.05867051,0.01121934,0.003320188,0.7491178,0.1706568,0.0001305395,0.0001814215,0.00008637607,0.006617106],"genre_candidate":"editorial","genre_consensus":null,"teacher_disagreement_score":0.02319369,"threshold_uncertainty_score":0.01647556,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04001581222326134,"score_gpt":0.2890823882109896,"score_spread":0.2490665759877283,"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."}}