{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008575466,0.0001558187,0.000115929,0.0001903859,0.0002661748,0.00004258643,0.0002441848,0.000104554,0.00002345826],"category_scores_gemma":[0.0003750782,0.0001192116,0.00002000685,0.0005605595,0.000890642,0.00005798244,0.00007736919,0.0001187649,0.000004383331],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007684128,"about_ca_system_score_gemma":0.0002502767,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.04316528,"about_ca_topic_score_gemma":0.01905014,"domain_scores_codex":[0.998607,0.0001575255,0.0002426457,0.0003640963,0.000153901,0.0004748583],"domain_scores_gemma":[0.9995046,0.00005205123,0.00008804782,0.0001359746,0.00005306054,0.0001662891],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00000573671,0.00005429968,0.9024622,0.00000801953,0.000002758071,0.000003699837,0.00178498,0.00001545738,0.09526979,0.0002093852,0.00001254936,0.0001711285],"study_design_scores_gemma":[0.000241151,0.000109071,0.990594,0.00002614053,0.000003395682,0.0001207356,0.0005787424,0.0001457841,0.006410918,0.001551914,0.00005811949,0.0001599868],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976295,0.0001847178,0.000009958409,0.000421514,0.000108123,0.0003216959,0.00000830351,0.000002823918,0.001313424],"genre_scores_gemma":[0.9990188,0.00001000606,0.0005075605,0.0002117439,0.00003581047,0.00005812554,0.00007830363,0.000006650108,0.00007296841],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08885887,"threshold_uncertainty_score":0.9988496,"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."}}