{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003067337,0.0004481383,0.00030671,0.001351224,0.003486408,0.0007488739,0.0005282406,0.0005641559,0.004048785],"category_scores_gemma":[0.0009987054,0.0001383376,0.0003181239,0.001272865,0.0007109942,0.000160035,0.0004417996,0.0004344081,0.0002671039],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.009713906,"about_ca_system_score_gemma":0.005856395,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9709915,"about_ca_topic_score_gemma":0.9805431,"domain_scores_codex":[0.9996668,0.00002956734,0.00001366898,0.00007175349,0.0000973015,0.0001209501],"domain_scores_gemma":[0.9994836,0.00005302499,0.00008081806,0.00001727304,0.000231919,0.0001334049],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002336298,0.00006895338,0.9702135,0.00003861223,0.00007717015,0.00385675,0.002652348,0.0001684796,0.005961445,0.0002661699,0.001876382,0.01458647],"study_design_scores_gemma":[0.00002190187,0.00008478785,0.9889902,0.00004740178,0.00004857191,0.004076049,0.002277425,0.0004076271,0.0004301101,0.00004997715,0.003543921,0.00002196145],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996182,0.0005170105,0.0001294802,0.0002535372,0.0000124056,0.00002410015,0.0005664725,0.000008540918,0.002306569],"genre_scores_gemma":[0.998112,0.000218791,0.0001849896,0.0001550316,0.000006500262,0.000006478107,0.000301739,0.000004629765,0.001009868],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02900851,"threshold_uncertainty_score":0.07047963,"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."}}