{"id":"W1989648493","doi":"10.1097/gim.0b013e3181ef6079","title":"Carrier testing for spinal muscular atrophy","year":2010,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":31,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Ottawa","funders":"National Human Genome Research Institute; National Institutes of Health","keywords":"Spinal muscular atrophy; Medicine; Carrier testing; Health care; Disease; Scope (computer science); Atrophy; Physical therapy; Physical medicine and rehabilitation; Intensive care medicine; Pathology; Pregnancy; Prenatal diagnosis; Genetics","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":[0.0005852549,0.001549567,0.0006414476,0.003321964,0.001887578,0.0006096881,0.000783891,0.003403428,0.01980761],"category_scores_gemma":[0.004479236,0.0002603974,0.0007245139,0.00112567,0.0008351042,0.000834908,0.0005577495,0.0009757455,0.001575336],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003597956,"about_ca_system_score_gemma":0.0009059065,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007013801,"about_ca_topic_score_gemma":0.004055927,"domain_scores_codex":[0.9992981,0.0001370053,0.00007964423,0.0001448992,0.0001853699,0.0001549793],"domain_scores_gemma":[0.9984059,0.0009515581,0.0001314718,0.00007635428,0.0002078439,0.0002268789],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001237289,0.0007059031,0.3613096,0.0003352597,0.0001949039,0.5385029,0.003539594,0.0003421115,0.03542618,0.005411637,0.0173859,0.03560869],"study_design_scores_gemma":[0.0002205617,0.001775279,0.3064661,0.0005629835,0.0005594051,0.6264215,0.002897981,0.002331823,0.01810463,0.004212233,0.03634731,0.0001002726],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9546642,0.002747559,0.002010252,0.007825188,0.001249274,0.0001527436,0.00248333,0.0001147057,0.02875268],"genre_scores_gemma":[0.9861558,0.001047754,0.001104122,0.001213545,0.0003255045,0.00004733522,0.0008477617,0.00003464235,0.009223567],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01980761,"threshold_uncertainty_score":0.06626302,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06057249742501898,"score_gpt":0.3800466584055252,"score_spread":0.3194741609805062,"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."}}