{"id":"W2001733646","doi":"10.1007/s10545-011-9436-z","title":"Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America","year":2012,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Instituto Nacional de Genética Médica Populacional; Conselho Nacional de Desenvolvimento Científico e Tecnológico; McGill University","keywords":"Human genetics; Medical genetics; Latin Americans; Newborn screening; Medicine; Population; Genetics; Biology; Environmental health; Political science; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000283462,0.0002068472,0.0005218886,0.0003812315,0.00006090562,0.00004492402,0.000120047,0.00006447121,0.0001007011],"category_scores_gemma":[0.0008414392,0.0001551896,0.0001416985,0.0004352515,0.0001244153,0.0003174656,0.00007424257,0.0003852558,0.000001350576],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006218581,"about_ca_system_score_gemma":0.0003589339,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004027083,"about_ca_topic_score_gemma":0.000005984776,"domain_scores_codex":[0.9974771,0.0001455541,0.000590232,0.000187164,0.001038041,0.0005618731],"domain_scores_gemma":[0.997395,0.00007174785,0.000291577,0.0001673036,0.0002852426,0.001789092],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004308628,0.0008563295,0.6446099,0.0001718667,0.0001219471,0.00006913453,0.0002360169,0.0001863739,0.0001716421,0.00001563314,0.0001104607,0.349142],"study_design_scores_gemma":[0.00576129,0.000299149,0.9710579,0.0003591315,0.0004684428,0.00004765837,0.000329202,0.005267919,0.00001474041,0.00003360063,0.01619556,0.0001653992],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9309046,0.04809395,0.01972198,0.0005510133,0.0001555652,0.000503463,0.00004685875,0.00001344462,0.000009106745],"genre_scores_gemma":[0.9886715,0.002239134,0.008220136,0.0001674912,0.0005834298,0.00002090923,0.00004060123,0.00004315174,0.00001365778],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3489766,"threshold_uncertainty_score":0.632845,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02459276778839604,"score_gpt":0.3365297221825174,"score_spread":0.3119369543941214,"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."}}