{"id":"W4385798118","doi":"10.1002/ajmg.a.63369","title":"Epidemiology of spinal muscular atrophy caused by <scp><i>SMN1</i></scp> deletions in Maritime Canada","year":2023,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Capital District Health Authority; Stan Cassidy Foundation; Izaak Walton Killam Health Centre; Dalhousie University","funders":"","keywords":"SMN1; SMA*; Spinal muscular atrophy; Incidence (geometry); Epidemiology; Medicine; Disease; Medical genetics; Pediatrics; Genetics; Internal medicine; Biology; Gene; Computer science","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001648134,0.0001715533,0.0008935599,0.0002791664,0.00003848683,0.000002254913,0.0003729178,0.0001079637,0.00009761398],"category_scores_gemma":[0.003110722,0.0001479475,0.000221643,0.0009574651,0.0007218215,0.00001222841,0.0001081589,0.0007091187,0.000009368096],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007673594,"about_ca_system_score_gemma":0.002348896,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01508639,"about_ca_topic_score_gemma":0.008475006,"domain_scores_codex":[0.9960383,0.0005046219,0.001030058,0.0002386992,0.001560594,0.0006277615],"domain_scores_gemma":[0.9975819,0.0006765844,0.0003579371,0.0002906874,0.0002334686,0.0008594295],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002374928,0.0008833673,0.6928872,0.0003409409,0.0009946704,0.004721509,0.0003612991,0.0006813139,0.006499311,0.0001121257,0.1853141,0.1069666],"study_design_scores_gemma":[0.006456018,0.007799948,0.6592918,0.0007079314,0.0003520169,0.001065162,0.002491748,0.003039956,0.001601519,0.0002447951,0.3167042,0.0002448991],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9866811,0.00538738,0.0008448823,0.006600907,0.0001816769,0.0001819297,0.00001913947,0.000007604808,0.00009539035],"genre_scores_gemma":[0.9884586,0.008550555,0.0006316473,0.001957254,0.0001693654,0.00001150273,0.00002146813,0.00003545522,0.0001641602],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1313901,"threshold_uncertainty_score":0.9914722,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02586942994378466,"score_gpt":0.3320169967866044,"score_spread":0.3061475668428197,"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."}}