{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007272173,0.0004724931,0.000511976,0.003944504,0.005829652,0.001500409,0.00112588,0.0006737926,0.005001075],"category_scores_gemma":[0.001998726,0.0003326614,0.0006008307,0.006756676,0.001218346,0.0002776612,0.0009509551,0.0004327559,0.0002631836],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.02422976,"about_ca_system_score_gemma":0.0257266,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9904268,"about_ca_topic_score_gemma":0.9934711,"domain_scores_codex":[0.9988281,0.000101617,0.00004855982,0.0002616736,0.0003173521,0.0004426884],"domain_scores_gemma":[0.9983644,0.0001108212,0.0002135946,0.00004012102,0.0009204456,0.0003505368],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002653397,0.00003478541,0.96639,0.00009703609,0.0001348399,0.001733978,0.00572294,0.0002564942,0.002241865,0.001392371,0.003588895,0.0181415],"study_design_scores_gemma":[0.00001085975,0.000040892,0.9834222,0.00008237983,0.00006554777,0.000912424,0.00624329,0.0002259741,0.0001417103,0.0001312199,0.00869034,0.00003310604],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9859175,0.002430815,0.0002489457,0.001228667,0.00003410718,0.00004088469,0.002867252,0.00002053444,0.007211341],"genre_scores_gemma":[0.9939179,0.00136232,0.0004216401,0.0002083976,0.00001320416,0.00002194798,0.001082984,0.00001521666,0.002956366],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02422976,"threshold_uncertainty_score":0.1758001,"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."}}