{"id":"W2435303591","doi":"10.1385/1-59259-330-5:131","title":"Multiplexed Fluorescence Analysis for Mutations Causing Tay-Sachs Disease","year":2003,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Tay-Sachs disease; Incidence (geometry); Population; Disease; Hexosaminidase; Medicine; Pediatrics; Internal medicine; Chemistry; Enzyme; Biochemistry; Environmental health; Physics","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009369947,0.0001353589,0.0002145301,0.0002285031,0.0001607379,0.00003467574,0.0000730991,0.00004695762,0.00008542867],"category_scores_gemma":[0.001331785,0.0001339754,0.0002234792,0.0009102116,0.00009269603,0.00002896538,0.00002276479,0.0001094038,0.00001521255],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004505853,"about_ca_system_score_gemma":0.0001878008,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001272493,"about_ca_topic_score_gemma":0.00001978751,"domain_scores_codex":[0.9986608,0.0000721722,0.000211737,0.0003403733,0.000365223,0.000349718],"domain_scores_gemma":[0.9988033,0.0001375209,0.00004610244,0.000402857,0.0002534977,0.0003567709],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003435443,0.0008961249,0.804427,0.0002454805,0.0008600695,0.0004576578,0.0003464785,0.01058291,0.176197,0.0007534383,0.0004527663,0.004437487],"study_design_scores_gemma":[0.008147391,0.0007603277,0.6506912,0.00005496572,0.00727373,0.00007662402,0.0003546883,0.1690694,0.1372053,0.0007876859,0.02461469,0.0009640089],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9870086,0.0006112145,0.0104284,0.0004896143,0.00009085044,0.0009672663,0.0000641571,0.00006484305,0.0002750545],"genre_scores_gemma":[0.988427,0.00004701679,0.01067771,0.0002623666,0.00003472473,0.00006947143,0.00007622644,0.00003561192,0.0003698134],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1584864,"threshold_uncertainty_score":0.5463358,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04686590381695478,"score_gpt":0.3313071207194846,"score_spread":0.2844412169025298,"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."}}