{"id":"W2155312639","doi":"","title":"Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I.","year":2012,"lang":"en","type":"article","venue":"PubMed","topic":"Hearing, Cochlea, Tinnitus, Genetics","field":"Neuroscience","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"","keywords":"Usher syndrome; Genetics; Retinitis pigmentosa; Locus (genetics); Genetic heterogeneity; Biology; Locus heterogeneity; Exon; Single-nucleotide polymorphism; Population; Gene; Medicine; Genotype; Phenotype","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.000177531,0.0005625142,0.0002677811,0.001596784,0.001134091,0.0004688699,0.0005765565,0.0003182388,0.003130495],"category_scores_gemma":[0.0006906942,0.0001887699,0.0001614506,0.001184921,0.0007409084,0.0001108466,0.0006031322,0.0001906204,0.0001741809],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001227769,"about_ca_system_score_gemma":0.00115357,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.2294727,"about_ca_topic_score_gemma":0.3131032,"domain_scores_codex":[0.9997391,0.00002168693,0.00001405253,0.00005746692,0.00008672581,0.00008090297],"domain_scores_gemma":[0.9997169,0.00004689682,0.0000908316,0.00001416413,0.00005428357,0.0000769304],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000471786,0.00007731506,0.942812,0.00005053993,0.00009124696,0.01393194,0.003968033,0.0001948225,0.02707852,0.000267813,0.0004051089,0.01065092],"study_design_scores_gemma":[0.00001962531,0.00007682858,0.9886687,0.00001550417,0.00004584338,0.008346169,0.001224407,0.0001479751,0.0007696146,0.00005812055,0.0006187252,0.000008468648],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990715,0.0001076101,0.00006951725,0.00001720976,0.000001480547,0.000007511322,0.00008529445,0.000005091729,0.0006348437],"genre_scores_gemma":[0.9992856,0.00009370513,0.000116386,0.00001639062,0.000002435791,0.000005812879,0.0001747613,0.000004153263,0.0003008326],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2294727,"threshold_uncertainty_score":0.4562739,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09348049563765796,"score_gpt":0.273898711906533,"score_spread":0.180418216268875,"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."}}