{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","research_integrity"],"consensus_categories":[],"category_scores_codex":[0.001599102,0.000781851,0.003371924,0.0007295803,0.00007954863,0.0001052191,0.002639233,0.0005423756,0.0003212182],"category_scores_gemma":[0.002282966,0.0006616763,0.000863135,0.001625063,0.001319416,0.00004925136,0.0005341518,0.002515318,0.0002431428],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004270113,"about_ca_system_score_gemma":0.003916356,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003465591,"about_ca_topic_score_gemma":0.00002535354,"domain_scores_codex":[0.9901507,0.001437527,0.003061651,0.0008467525,0.003385757,0.001117593],"domain_scores_gemma":[0.9947141,0.0007140993,0.002123343,0.0009103651,0.0001173863,0.001420644],"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":[0.00001094009,0.0003047161,0.0001662038,0.001700257,0.00007270658,0.005327348,0.0001091399,0.0001409091,0.00001369066,0.000009937652,0.0001638557,0.9919803],"study_design_scores_gemma":[0.0006776567,0.001351551,0.0003406264,0.01511981,0.0003635016,0.01648484,0.00002335031,0.00003766524,0.00004832916,0.00006766139,0.9647271,0.0007578805],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.03904961,0.9585965,0.000349411,0.0001802561,0.001197885,0.0004837647,0.00001850518,0.00002505581,0.00009902056],"genre_scores_gemma":[0.005847449,0.9906727,0.002156351,0.0006058192,0.0004793644,0.00001960951,0.000001737905,0.0001682833,0.00004866841],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9912224,"threshold_uncertainty_score":0.9997859,"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."}}