{"id":"W2141692107","doi":"10.1136/jmedgenet-2012-101132","title":"Mutations in <i>TMEM231</i> cause Joubert syndrome in French Canadians","year":2012,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":75,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire de Sherbrooke; McGill University; Montreal Children's Hospital; McGill University and Génome Québec Innovation Centre; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Université de Montréal; University of Toronto; Ontario Genomics Institute; McGill University; Génome Québec; Canadian Institutes of Health Research; Ontario Genomics; Genome Canada; Government of Canada","keywords":"Joubert syndrome; Cilium; Ciliopathy; Polydactyly; Compound heterozygosity; Biology; Exome sequencing; Phenotype; Mutation; Genetics; Ciliogenesis; Genetic heterogeneity; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000515068,0.0001179132,0.0001960968,0.0001421731,0.0000207601,0.00001091092,0.0002889434,0.0002212777,0.0001212232],"category_scores_gemma":[0.0004479749,0.0001063402,0.00007905941,0.0001667003,0.0000825308,0.000004609586,0.00005194041,0.0002359437,0.000006864325],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003674129,"about_ca_system_score_gemma":0.0007539401,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003040809,"about_ca_topic_score_gemma":0.002085037,"domain_scores_codex":[0.9984334,0.00009371262,0.0005004549,0.000108748,0.0004976545,0.0003659952],"domain_scores_gemma":[0.9988727,0.00002646282,0.0001175724,0.0001591375,0.00006445884,0.000759671],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00006951325,0.001570052,0.9292528,0.00009502297,0.0002193968,0.001510601,0.001229809,0.001085462,0.02383591,0.00004745894,0.03211646,0.008967487],"study_design_scores_gemma":[0.003600309,0.0006988507,0.912692,0.000226164,0.0001142117,0.002835838,0.0006795958,0.0001825318,0.006826486,0.0002211563,0.07144297,0.0004798831],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9894257,0.008195197,0.00025742,0.00131223,0.0004003014,0.00007224309,0.00001328663,0.000001254864,0.0003223223],"genre_scores_gemma":[0.9968519,0.001247248,0.0005365406,0.0008842092,0.0003163377,0.0000039425,0.00001511966,0.00001516987,0.0001295915],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03932651,"threshold_uncertainty_score":0.4336427,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01077494327551205,"score_gpt":0.2714353603209262,"score_spread":0.2606604170454142,"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."}}