{"id":"W2081837369","doi":"10.1002/ajmg.a.30052","title":"Genetic heterogeneity in Usher syndrome","year":2004,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Hearing, Cochlea, Tinnitus, Genetics","field":"Neuroscience","cited_by":57,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital","funders":"","keywords":"Usher syndrome; Retinitis pigmentosa; Hearing loss; Loss function; Genetic heterogeneity; Congenital hearing loss; Retinal degeneration; Genetics; Medicine; Biology; Gene; Audiology; Sensorineural hearing loss; 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":[0.0001995218,0.000561993,0.0008226787,0.00130043,0.0001543234,0.0003716146,0.0004054022,0.0007633508,0.001887259],"category_scores_gemma":[0.0005408644,0.000106883,0.0002065138,0.001117624,0.0004638885,0.0003577858,0.0003549703,0.0004289547,0.0006038317],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003346041,"about_ca_system_score_gemma":0.0004565193,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001086935,"about_ca_topic_score_gemma":0.001520666,"domain_scores_codex":[0.999872,0.00001737195,0.0000161323,0.00003605055,0.00004063301,0.00001780061],"domain_scores_gemma":[0.999897,0.0000446029,0.00001691291,0.000005690319,0.00002436827,0.00001143199],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00009428275,0.00004181725,0.007116306,0.003111387,0.0001058893,0.02143806,0.0002465683,0.0004639164,0.004208037,0.006563146,0.02474501,0.9318656],"study_design_scores_gemma":[0.00007010296,0.0001281392,0.02697399,0.002610558,0.0003656433,0.378592,0.0004326262,0.0003247747,0.002576097,0.009564437,0.5783145,0.00004721429],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.01083075,0.9770841,0.001291612,0.001155398,0.0002839974,0.00001041108,0.00005277431,0.00006290427,0.009228058],"genre_scores_gemma":[0.07276469,0.9202075,0.0009500161,0.0009572187,0.0006579778,0.00001715606,0.0001794326,0.00001119782,0.004254864],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.001887259,"threshold_uncertainty_score":0.006313503,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08191012807293427,"score_gpt":0.3814607806716995,"score_spread":0.2995506525987652,"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."}}