{"id":"W2148076584","doi":"10.1136/jmg.2007.053520","title":"Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations","year":2007,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Cholesterol and Lipid Metabolism","field":"Medicine","cited_by":58,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Smith–Lemli–Opitz syndrome; Biology; Allele; Genetics; Haplotype; Founder effect; Allele frequency; Population; Gene; Reductase; 7-Dehydrocholesterol reductase; Medicine","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":[0.001415508,0.00008913752,0.0003351406,0.0002798713,0.00002159877,0.000008404571,0.0001155185,0.00008909758,0.00008011227],"category_scores_gemma":[0.0003184356,0.00006911212,0.00007243381,0.0002177634,0.0001225683,0.00003256035,0.00002946427,0.0004062191,0.000003645379],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002077796,"about_ca_system_score_gemma":0.000114921,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001141407,"about_ca_topic_score_gemma":0.00003801099,"domain_scores_codex":[0.9981105,0.00007316932,0.0008092776,0.00008568855,0.0007570143,0.0001643136],"domain_scores_gemma":[0.999071,0.00008272698,0.0002303708,0.0001193677,0.0001014433,0.000395067],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008693099,0.003084789,0.6338645,0.0009656286,0.0005056661,0.02936884,0.01109817,0.0002308778,0.01782792,0.003124805,0.002197035,0.2968625],"study_design_scores_gemma":[0.003915812,0.0002647305,0.9771939,0.0003749676,0.0001504279,0.002385715,0.0002164912,0.00009371658,0.0001396495,0.0001947929,0.01500262,0.00006718417],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9937971,0.002221724,0.001652052,0.001214037,0.0003828362,0.00009214219,0.000002920818,0.000004279335,0.0006328885],"genre_scores_gemma":[0.9932658,0.0006559891,0.005173922,0.0002894002,0.0004266568,2.698084e-7,0.000003065421,0.00001515033,0.0001697595],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3433294,"threshold_uncertainty_score":0.2818311,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03836351354858632,"score_gpt":0.3353424129691602,"score_spread":0.2969788994205739,"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."}}