{"id":"W2169133635","doi":"10.1186/gb-2007-8-4-r47","title":"Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1Cgene provides the first genetic link with the Acadian population","year":2007,"lang":"en","type":"article","venue":"Genome biology","topic":"Hearing, Cochlea, Tinnitus, Genetics","field":"Neuroscience","cited_by":46,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital","funders":"Universität zu Köln; Deutsche Forschungsgemeinschaft","keywords":"Biology; Genetics; Human genetics; Mutation; Gene; Founder effect; Link (geometry); Population; Genealogy; Evolutionary biology; Demography; Haplotype; Sociology; Genotype; History","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007617545,0.0001933381,0.0001730393,0.0001791823,0.0003032405,0.00008250841,0.0006917576,0.0001904793,0.0000249885],"category_scores_gemma":[0.0003325437,0.0001028914,0.00003059961,0.0006503892,0.0002930784,0.0000523026,0.00006292868,0.0003682909,0.00002555645],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002532224,"about_ca_system_score_gemma":0.0002667462,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.3132862,"about_ca_topic_score_gemma":0.9353254,"domain_scores_codex":[0.9979367,0.000421808,0.0003826982,0.0004841478,0.0001703636,0.0006043152],"domain_scores_gemma":[0.9983642,0.0008593891,0.0001514494,0.0005272588,0.00003443576,0.00006333293],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002513503,0.000197307,0.7952825,0.00004145757,0.00003308908,0.000318258,0.0703612,0.01214,0.06887738,0.002052449,0.0001088442,0.0503362],"study_design_scores_gemma":[0.0004023857,0.0001241767,0.9889231,0.00001043653,0.00001200013,0.00003547882,0.0007534665,0.000690965,0.000606244,0.001009545,0.007267382,0.0001648457],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9905351,0.0002940629,0.001050803,0.006729865,0.0001469371,0.001089096,0.00002186361,0.00001546657,0.0001167572],"genre_scores_gemma":[0.996745,0.00002220619,0.0002595565,0.002504884,0.0002415471,0.0000980242,0.00002639904,0.00002273263,0.00007961091],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6220393,"threshold_uncertainty_score":0.6912867,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02432801676960186,"score_gpt":0.2599000133357797,"score_spread":0.2355719965661778,"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."}}