{"id":"W2036013202","doi":"10.1038/ejhg.2008.143","title":"An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians","year":2008,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Hearing, Cochlea, Tinnitus, Genetics","field":"Neuroscience","cited_by":37,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"Universität zu Köln; Deutsche Forschungsgemeinschaft","keywords":"Genetics; Founder effect; Biology; Usher syndrome; Mutation; Gene; Haplotype; Genotype; Retinitis pigmentosa","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":[0.0003193887,0.001024285,0.0005384148,0.003727709,0.003491115,0.0007019195,0.0009572771,0.001040415,0.00841017],"category_scores_gemma":[0.001391255,0.0003299441,0.0006609411,0.003711016,0.0009752347,0.0002549094,0.0005085783,0.0004950133,0.0004119205],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004409927,"about_ca_system_score_gemma":0.006825936,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.923507,"about_ca_topic_score_gemma":0.9443073,"domain_scores_codex":[0.9994377,0.00003877001,0.0000308851,0.00009744809,0.000189999,0.0002051321],"domain_scores_gemma":[0.9993477,0.0001282099,0.0001128436,0.0000243393,0.0001917022,0.0001952379],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001932376,0.0001963036,0.7859535,0.0001642216,0.0002793194,0.07857522,0.008227449,0.0008019599,0.08175325,0.002420989,0.005173299,0.03452211],"study_design_scores_gemma":[0.0000977176,0.0001591219,0.9401661,0.00006717897,0.0002245879,0.04158469,0.003770501,0.0008448113,0.004961572,0.0003063197,0.007709661,0.000107911],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995019,0.000410215,0.0002197,0.0002648054,0.00002887303,0.00001749994,0.0007485215,0.0000230188,0.00326845],"genre_scores_gemma":[0.9970861,0.0002370889,0.0005303517,0.00007620029,0.00001292595,0.000006218464,0.0003076567,0.00001347048,0.001729986],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07649297,"threshold_uncertainty_score":0.1538869,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06226034538171647,"score_gpt":0.2977811424703394,"score_spread":0.235520797088623,"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."}}