{"id":"W2039819049","doi":"10.1126/science.1063525","title":"Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder","year":2001,"lang":"en","type":"article","venue":"Science","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":655,"is_retracted":false,"has_abstract":true,"ca_institutions":"Simon Fraser University","funders":"National Eye Institute","keywords":"Bardet–Biedl syndrome; Genetics; Mendelian inheritance; Polydactyly; Biology; Pedigree chart; Allele; Genetic heterogeneity; Positional cloning; Phenotype; Autosomal recessive trait; Mutation; OMIM : Online Mendelian Inheritance in Man; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002558379,0.0001089052,0.000106384,0.00007671549,0.0001014615,0.0000354952,0.0003939451,0.00005484692,0.00005800473],"category_scores_gemma":[0.000253616,0.00009901601,0.00003808567,0.0005382451,0.0002889502,0.000008231437,0.0001090012,0.00004941039,0.00002844387],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001733777,"about_ca_system_score_gemma":0.0003023297,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002757237,"about_ca_topic_score_gemma":0.0001028704,"domain_scores_codex":[0.9988156,0.00003127948,0.0001625546,0.0004408777,0.000210793,0.0003388747],"domain_scores_gemma":[0.9994154,0.000005051459,0.00004457184,0.0003147694,0.00005906218,0.0001611628],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002079048,0.0002689755,0.05954736,0.00001865105,0.00001363475,0.00009287875,0.0001935414,0.0002904396,0.9262868,0.00006433603,0.001491758,0.01152375],"study_design_scores_gemma":[0.005697861,0.001291537,0.5600235,0.0001427385,0.00002951493,0.0003383939,0.001829774,0.0005697777,0.09425853,0.002517938,0.331819,0.00148137],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938748,0.001602296,0.0002807899,0.0003609593,0.0001843698,0.0001585449,0.000006887668,0.000009140154,0.00352216],"genre_scores_gemma":[0.9975079,0.0005276424,0.0004616854,0.0003469188,0.00004589345,0.00002917551,0.000008520822,0.000008122097,0.001064127],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8320283,"threshold_uncertainty_score":0.4037756,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0097073922891102,"score_gpt":0.2657690440105495,"score_spread":0.2560616517214392,"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."}}