{"id":"W4386620056","doi":"10.1101/2023.09.08.23295195","title":"Clinical actionability of genetic findings in cerebral palsy","year":2023,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Cerebral Palsy and Movement Disorders","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Holland Bloorview Kids Rehabilitation Hospital; SickKids Foundation; Hospital for Sick Children","funders":"National Institute of Neurological Disorders and Stroke; National Institutes of Health; Deutsche Forschungsgemeinschaft; US-UK Fulbright Commission; Fulbright Australia; Australian Government; Technische Universität München; Bundesministerium für Bildung und Forschung; Cerebral Palsy Alliance Research Foundation","keywords":"Medicine; Psychological intervention; Intervention (counseling); Etiology; Genetic counseling; Exome sequencing; Cerebral palsy; Genetic testing; Delphi method; Bioinformatics; Physical therapy; Internal medicine; Genetics; Phenotype; Psychiatry; Gene; Biology","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":[0.08018348,0.000457759,0.001240849,0.01130997,0.000667658,0.003015361,0.001468961,0.001627567,0.003223154],"category_scores_gemma":[0.1872728,0.0004110013,0.002497321,0.004802668,0.002908973,0.002241479,0.002854028,0.001421263,0.0002347049],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002926474,"about_ca_system_score_gemma":0.005436214,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002617211,"about_ca_topic_score_gemma":0.004139254,"domain_scores_codex":[0.912306,0.04514336,0.02091194,0.003977817,0.01674768,0.0009132603],"domain_scores_gemma":[0.7017256,0.2298182,0.03972547,0.003537537,0.02358185,0.001611312],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.001703837,0.0001721755,0.3758776,0.08822771,0.006090003,0.001442743,0.005136103,0.001612724,0.001748022,0.00582404,0.008505703,0.5036595],"study_design_scores_gemma":[0.0005041126,0.001840139,0.6530778,0.2430096,0.01172538,0.008791512,0.009346773,0.002950799,0.003743344,0.01802396,0.04659906,0.0003875094],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.4264738,0.4763716,0.01305773,0.03609738,0.001378714,0.002609872,0.006846234,0.0001147075,0.03705002],"genre_scores_gemma":[0.9439137,0.04227971,0.009416196,0.002275437,0.0003275626,0.00059517,0.0009428964,0.00001179026,0.0002375634],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.08018348,"threshold_uncertainty_score":0.4240558,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06943438670536958,"score_gpt":0.3618506229614564,"score_spread":0.2924162362560868,"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."}}