{"id":"W2505124116","doi":"10.71781/26377","title":"Genetic Landscape of Joubert syndrome in French Canadians","year":2015,"lang":"en","type":"dissertation","venue":"Open MIND","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Genetics; Genome British Columbia; Government of Canada; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; Retina France; Ontario Genomics Institute","keywords":"Joubert syndrome; Geography; Political science; Biology; Genetics","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009354949,0.000186962,0.0002800542,0.00008813345,0.00001827165,0.00003025777,0.000480534,0.0002890512,0.0008397808],"category_scores_gemma":[0.0000603581,0.0001926389,0.00006183233,0.00009625832,0.00002163891,0.000001897655,0.00005915064,0.00007775571,0.00004713907],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001409374,"about_ca_system_score_gemma":0.001312007,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004211695,"about_ca_topic_score_gemma":0.05541904,"domain_scores_codex":[0.9989573,0.00003846757,0.0002857735,0.0003702599,0.00013901,0.0002091359],"domain_scores_gemma":[0.9992115,0.000003803414,0.0001292359,0.0003553852,0.0001007211,0.0001993502],"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":[0.001395154,0.001875097,0.1162998,0.001031916,0.001466861,0.001306483,0.006050752,0.0007601497,0.3511638,0.000003938418,0.3241511,0.1944949],"study_design_scores_gemma":[0.004572771,0.001559992,0.7137402,0.0007292333,0.0004762413,0.0001777124,0.004525009,0.0000757263,0.06786183,0.000300079,0.2039134,0.002067817],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9476243,0.002537592,8.991377e-7,0.00001532754,0.0001779003,0.0003205071,0.0002477425,2.2952e-7,0.04907553],"genre_scores_gemma":[0.9736212,0.00008227769,0.0005935965,0.0000209942,0.00004562288,0.00003106687,0.00314092,0.00002759815,0.0224367],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5974403,"threshold_uncertainty_score":0.9618171,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01163186004075228,"score_gpt":0.2758354974099156,"score_spread":0.2642036373691634,"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."}}