{"id":"W2912480611","doi":"","title":"Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.","year":2019,"lang":"en","type":"article","venue":"PubMed","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Proband; Retinitis pigmentosa; Genetics; Biology; ABCA4; Stargardt disease; Genetic heterogeneity; Exome sequencing; DNA sequencing; Retinal Disorder; Sanger sequencing; Gene; Compound heterozygosity; Retinal; Mutation; 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":[0.0002486005,0.0004787733,0.0002297589,0.000977275,0.0002474895,0.0001880825,0.0002124625,0.0003591563,0.0007241554],"category_scores_gemma":[0.0006751865,0.0001210106,0.0002840645,0.0005050226,0.0002156395,0.00006862112,0.0001793047,0.0002259084,0.0001292477],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000286097,"about_ca_system_score_gemma":0.000253202,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001906983,"about_ca_topic_score_gemma":0.003751343,"domain_scores_codex":[0.9998183,0.00002700553,0.00001603143,0.00005770924,0.00005544177,0.00002555937],"domain_scores_gemma":[0.9998521,0.00005304843,0.00005282182,0.000009928995,0.00001811737,0.00001400015],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0007812131,0.0001614289,0.3742624,0.000264446,0.0003023694,0.01658824,0.001439596,0.002152816,0.5034173,0.0007103942,0.001319567,0.0986002],"study_design_scores_gemma":[0.0001229449,0.0005968568,0.8192477,0.00008892958,0.000646722,0.05235568,0.0006561594,0.007679058,0.1090208,0.0007092968,0.008840531,0.00003526188],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956299,0.0006750289,0.00250797,0.00008104437,0.00001276912,0.00002270066,0.0004091209,0.00005634935,0.0006050317],"genre_scores_gemma":[0.9948518,0.0002522354,0.004296568,0.00008990358,0.000007332872,0.00001438209,0.0002861667,0.000006924241,0.0001946311],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001906983,"threshold_uncertainty_score":0.003791809,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04522189938614236,"score_gpt":0.2316874500058365,"score_spread":0.1864655506196942,"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."}}