{"id":"W879142285","doi":"","title":"Novel Mutations In Autosomal Dominant Retinitis Pigmentosa And Their Prevalence In The French - Canadian Population, A Well - Known Founder Population","year":2012,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"","keywords":"Retinitis pigmentosa; Founder effect; Genetics; Population; Biology; Optometry; Medicine; Gene; Environmental health; Haplotype; Genotype","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004982264,0.0009775632,0.0005464689,0.004080721,0.003189336,0.001230222,0.001343978,0.001033464,0.005142089],"category_scores_gemma":[0.001878681,0.0003630117,0.0008196149,0.003389315,0.001070581,0.0003437992,0.0005527533,0.0005117821,0.0003171588],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.005282647,"about_ca_system_score_gemma":0.005618041,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9115482,"about_ca_topic_score_gemma":0.894462,"domain_scores_codex":[0.9990659,0.00007316449,0.00006757297,0.0002434009,0.0003038414,0.0002461202],"domain_scores_gemma":[0.9989638,0.0001318427,0.0001806354,0.00004040546,0.0004431826,0.0002400419],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00063727,0.0001281938,0.9664521,0.0000663704,0.000270123,0.004906035,0.003105051,0.0003002854,0.008523104,0.0006190036,0.001330497,0.01366205],"study_design_scores_gemma":[0.00002533228,0.00007606163,0.9915617,0.00002710944,0.0001331867,0.004745217,0.001381277,0.0002788166,0.0003009036,0.00008602061,0.001348597,0.00003576048],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964653,0.0007726265,0.000143202,0.0001376427,0.00001152395,0.00001725506,0.00099096,0.00001881991,0.001442536],"genre_scores_gemma":[0.9978704,0.0003934642,0.0002542383,0.0000448153,0.000009116398,0.000008176501,0.0003381821,0.000008102835,0.001073404],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0884518,"threshold_uncertainty_score":0.1779454,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02503697407453438,"score_gpt":0.3005725255201571,"score_spread":0.2755355514456227,"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."}}