{"id":"W2028900529","doi":"10.1016/j.ymgme.2014.01.002","title":"Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis","year":2014,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":false,"ca_institutions":"Saskatchewan Disease Control Laboratory","funders":"National Institutes of Health; University of Saskatchewan; National Institute of Diabetes and Digestive and Kidney Diseases; University of Washington","keywords":"Sandhoff disease; Tandem mass spectrometry; Substrate (aquarium); Tandem; Mass spectrometry; Chemistry; Computational biology; Biology; Genetics; Chromatography; Materials science; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001399904,0.0002398816,0.0003136879,0.0001982657,0.00005242951,0.00004669753,0.00007985219,0.0001128458,0.000002985347],"category_scores_gemma":[0.00003652232,0.0002303909,0.0000702826,0.0003450274,0.0001719813,0.00000766986,0.00005738756,0.00006432395,4.338742e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007648843,"about_ca_system_score_gemma":0.00006305554,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001390725,"about_ca_topic_score_gemma":0.0002051752,"domain_scores_codex":[0.9986843,0.00009147028,0.0002818703,0.0005086755,0.0001957731,0.0002378367],"domain_scores_gemma":[0.9991596,0.000007018486,0.0001375021,0.0003159892,0.00007993966,0.0002999104],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00004713857,0.00002789729,0.08603576,0.00002359419,0.0001211322,0.00001018005,0.00003561286,0.000793294,0.9121016,0.0000216908,2.591439e-7,0.0007818297],"study_design_scores_gemma":[0.001848151,0.000128703,0.5836567,0.00001702765,0.0009020261,0.00001566591,0.00007659435,0.01558481,0.3967604,0.0004879851,0.00006381609,0.0004581108],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8340655,0.009895834,0.1557925,0.00001519931,0.00001678923,0.0001665936,0.00003298354,0.00000418246,0.00001041633],"genre_scores_gemma":[0.9890835,0.0002530134,0.01046357,0.0001069309,0.00001972172,0.00001088446,0.00002668528,0.00002705644,0.000008602959],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5153412,"threshold_uncertainty_score":0.9395068,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003908894840336133,"score_gpt":0.2114235226813103,"score_spread":0.2075146278409742,"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."}}