{"id":"W1016955318","doi":"10.1167/iovs.15-17104","title":"Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population","year":2015,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":39,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"National Eye Institute; Canadian Institutes of Health Research","keywords":"Genetics; Biology; Founder effect; Sanger sequencing; Retinitis pigmentosa; Locus heterogeneity; Missense mutation; Population; Mutation; Phenotype; Genetic heterogeneity; Genotype; Gene; Haplotype; Medicine","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":[0.0005126944,0.000118229,0.0001405528,0.00009429631,0.0001472973,0.00001296452,0.0002177622,0.000079597,0.000005172295],"category_scores_gemma":[0.000833947,0.00008868551,0.00001852178,0.0004012362,0.002348007,0.00001593544,0.00018845,0.00007319967,0.000002008976],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007568674,"about_ca_system_score_gemma":0.0007095415,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01754172,"about_ca_topic_score_gemma":0.01076608,"domain_scores_codex":[0.998895,0.0001165451,0.0001956334,0.0003243873,0.0001893891,0.0002790539],"domain_scores_gemma":[0.9994141,0.00001912028,0.00009947307,0.0001300722,0.0001742776,0.0001628995],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00002105368,0.00002028805,0.7391332,0.0000100149,0.0000135696,0.00001237007,0.001427966,0.0000220374,0.2588961,0.0001919002,0.00008643112,0.0001649901],"study_design_scores_gemma":[0.0003089141,0.0002797115,0.9258093,0.00002855975,0.000006153527,0.00004182573,0.0007082096,0.00004647534,0.06671825,0.0058546,0.00006529425,0.0001327224],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973347,0.0004465632,7.90599e-7,0.0003130648,0.0002292961,0.0001743315,0.000002920873,0.000001795401,0.001496581],"genre_scores_gemma":[0.9993454,0.00001322081,0.0003456674,0.000119819,0.00002140245,0.00001173344,0.000008148869,0.000005357392,0.0001292896],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1921779,"threshold_uncertainty_score":0.9890006,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05706543378770041,"score_gpt":0.3383337030264115,"score_spread":0.2812682692387111,"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."}}