{"id":"W1835300104","doi":"","title":"Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.","year":2015,"lang":"en","type":"article","venue":"PubMed","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"Women's College Hospital","funders":"","keywords":"Genetics; Exome sequencing; Retinitis pigmentosa; Frameshift mutation; Sanger sequencing; Biology; Genetic heterogeneity; Mutation; Missense mutation; Exome; Gene; Disease gene identification; ABCA4; Bioinformatics; Phenotype","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001301949,0.0001375903,0.0001376878,0.00004640054,0.00003042485,0.00002021012,0.0001295251,0.00008093374,0.000006293282],"category_scores_gemma":[0.0001103789,0.0001071315,0.00005878694,0.000114634,0.00008646424,0.00001155776,0.00005796468,0.0000504017,0.000003018921],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005297217,"about_ca_system_score_gemma":0.0001258785,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000773193,"about_ca_topic_score_gemma":0.00002816513,"domain_scores_codex":[0.9990596,0.0000387767,0.0001747833,0.0002270221,0.0002026335,0.0002972402],"domain_scores_gemma":[0.9993486,0.000004452524,0.0001410132,0.0001721272,0.0001595957,0.0001741657],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002421585,0.0000477805,0.9924663,0.000009700469,0.00007352947,0.000002998868,0.0001491413,0.00002845654,0.0009503039,0.000001975035,0.000853822,0.005173874],"study_design_scores_gemma":[0.001363774,0.0002742879,0.993829,0.00001173654,0.00001369037,0.000001573808,0.0001083169,0.000003324626,0.003727225,0.0000238855,0.0004747393,0.0001684918],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927246,0.00006963275,0.00003820426,0.00002461381,0.00005975076,0.0003674068,0.00002007901,0.00001076323,0.006684958],"genre_scores_gemma":[0.9989326,0.00000845611,0.0001653688,0.00002466222,0.00003666481,0.000136344,0.0002156914,0.00001824356,0.000461944],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006223013,"threshold_uncertainty_score":0.4368694,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01500154143477935,"score_gpt":0.2183845409379889,"score_spread":0.2033829995032095,"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."}}