{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002940013,0.000415992,0.0004927205,0.0002285035,0.00003985668,0.00003255054,0.0003034739,0.0003604371,0.0001770724],"category_scores_gemma":[0.0001365677,0.0004424445,0.0001318388,0.0001993017,0.0001166018,0.000007151771,0.0003874463,0.0006001446,0.000003401278],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007159378,"about_ca_system_score_gemma":0.0001179452,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001069601,"about_ca_topic_score_gemma":0.0005785145,"domain_scores_codex":[0.9969072,0.0003250825,0.001000871,0.0008805827,0.0004182139,0.0004680397],"domain_scores_gemma":[0.9989586,0.0001036976,0.0003312814,0.0005135129,0.00002931182,0.00006358305],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003987945,0.001261351,0.7883443,0.0005119495,0.0004584615,0.0003963147,0.000527693,0.00120237,0.01418666,0.000005366228,0.162331,0.03037568],"study_design_scores_gemma":[0.001802688,0.000621465,0.1943236,0.0000782097,0.00004705433,0.00000446045,0.0001534072,0.00009197601,0.0002817789,0.0001042654,0.8019912,0.0004998792],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"commentary","genre_scores_codex":[0.9830409,0.002259698,0.00001925189,0.01236257,0.0003507906,0.001033701,0.000173665,0.000007393182,0.0007520462],"genre_scores_gemma":[0.1988212,0.01062562,0.003777927,0.7825943,0.000288055,0.0005921029,0.0004461827,0.0002939558,0.002560685],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.7842197,"threshold_uncertainty_score":0.9998027,"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."}}