{"id":"W2993956100","doi":"","title":"Usher Syndrome in French Canadians From Quebec: A Predominant Founder Mutation in the USH1C Gene Provides the First Genetic Link With the Acadian Population","year":2007,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Hearing, Cochlea, Tinnitus, Genetics","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Children's Hospital","funders":"","keywords":"Founder effect; Genealogy; Mutation; Genetics; Population; Biology; Gene; Demography; History; Sociology; Haplotype","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":[0.0003922001,0.001244649,0.0006045059,0.002601991,0.00595843,0.000902776,0.0009837,0.001251238,0.009264573],"category_scores_gemma":[0.00145476,0.0002952863,0.0006283332,0.002923077,0.001384269,0.0003535375,0.0007958588,0.0008652948,0.0004469193],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01052807,"about_ca_system_score_gemma":0.01410719,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9860317,"about_ca_topic_score_gemma":0.9894505,"domain_scores_codex":[0.9994428,0.00005514006,0.00003293185,0.0001108481,0.0001563071,0.0002020698],"domain_scores_gemma":[0.9993423,0.0001032905,0.00007646796,0.00002361268,0.000284802,0.0001695022],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001021083,0.0002981059,0.805021,0.0002001133,0.0003607989,0.07826811,0.01663251,0.0008878209,0.01795171,0.00452816,0.01078809,0.06404244],"study_design_scores_gemma":[0.0001346037,0.0002247555,0.9304009,0.0002009526,0.0003231699,0.04132629,0.009292462,0.00118885,0.001086907,0.0005821463,0.01510067,0.0001384075],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9851672,0.001352911,0.0004940504,0.001193078,0.00007594087,0.00005211029,0.001136673,0.00003650131,0.01049163],"genre_scores_gemma":[0.9940315,0.0006169683,0.0004946369,0.0003077512,0.0000277198,0.00001524699,0.0002889158,0.00001774365,0.004199611],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01396835,"threshold_uncertainty_score":0.07638687,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03975566801944266,"score_gpt":0.3088316091941576,"score_spread":0.269075941174715,"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."}}