{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002117803,0.0001701568,0.0001397627,0.00009805774,0.00005219018,0.00005624669,0.0001336241,0.0001057318,0.00001884304],"category_scores_gemma":[0.0001309493,0.0001784224,0.0000618489,0.0002043926,0.00002831065,0.00001194757,0.00005879623,0.00008505738,0.00001786866],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000067435,"about_ca_system_score_gemma":0.00009232616,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004676625,"about_ca_topic_score_gemma":0.00007610541,"domain_scores_codex":[0.9986682,0.00009443679,0.000258476,0.0004156893,0.0001575016,0.000405707],"domain_scores_gemma":[0.9994897,0.000008152965,0.00007443817,0.0002401438,0.00004421197,0.0001433477],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001478678,0.00002870023,0.5798791,0.00007151226,0.00002075757,0.00001579722,0.00009607578,0.0007898258,0.4081188,0.00001752983,0.0003434609,0.01047057],"study_design_scores_gemma":[0.0007024596,0.00003040614,0.9925473,0.00001615492,0.00001101651,0.000002507386,0.0001043584,0.0007988865,0.004293384,0.00008607737,0.001117003,0.0002904054],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964398,0.001156549,0.0001710148,0.00008299216,0.0001773109,0.0007908326,0.000003247152,0.00001912779,0.001159148],"genre_scores_gemma":[0.9977373,0.0002321554,0.0004174983,0.0004570258,0.0000779637,0.0003135468,0.0002057227,0.00002672923,0.0005320429],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4126683,"threshold_uncertainty_score":0.7275856,"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."}}