{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006071707,0.0003807211,0.0002749698,0.0008286333,0.0003631326,0.0003312227,0.0002315157,0.000302976,0.001169528],"category_scores_gemma":[0.001976734,0.00009176967,0.0002764991,0.0005700247,0.0001752569,0.0002237581,0.0002820736,0.0001861478,0.0001213701],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002130612,"about_ca_system_score_gemma":0.0003775388,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001994958,"about_ca_topic_score_gemma":0.003472898,"domain_scores_codex":[0.9996378,0.00009358433,0.00004440737,0.0001077023,0.00007688559,0.00003956391],"domain_scores_gemma":[0.9992674,0.000330084,0.0001726143,0.00005243378,0.0001227727,0.00005469364],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001096958,0.0001202024,0.8849235,0.0003303522,0.000500764,0.01000104,0.0006559346,0.000796981,0.03170958,0.0002781205,0.002581184,0.06700545],"study_design_scores_gemma":[0.00007472741,0.0002587669,0.9679969,0.0000884856,0.0005442383,0.01727861,0.000591342,0.001424762,0.00641131,0.0003808854,0.004928962,0.00002100435],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960686,0.001207509,0.0004536935,0.000194135,0.00002060479,0.00002419373,0.001187973,0.00001866953,0.0008244788],"genre_scores_gemma":[0.9968169,0.0004506826,0.001163022,0.0001583032,0.00001543135,0.00001685478,0.001221044,0.000006601698,0.0001511006],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001994958,"threshold_uncertainty_score":0.003966689,"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."}}