{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002533913,0.0003079902,0.0002573549,0.000519339,0.0004005534,0.0003531722,0.0001885175,0.0003409539,0.002692702],"category_scores_gemma":[0.001189058,0.0001292454,0.0001330734,0.0003874816,0.0003428952,0.0001775429,0.0003592433,0.0001951428,0.0004943548],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002146725,"about_ca_system_score_gemma":0.0002395902,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006652729,"about_ca_topic_score_gemma":0.0009520298,"domain_scores_codex":[0.9998201,0.0000610637,0.00001702509,0.0000481629,0.00003352536,0.00002021853],"domain_scores_gemma":[0.9995709,0.0001466804,0.0001564205,0.00003967835,0.00003058325,0.00005567801],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00811923,0.0005674296,0.3344041,0.0008187133,0.0004116593,0.1651767,0.001857422,0.003422379,0.319008,0.02267346,0.008428833,0.135112],"study_design_scores_gemma":[0.001016661,0.00223267,0.28377,0.0003236164,0.000545572,0.5358309,0.0007310042,0.0178075,0.09496043,0.02007983,0.04248652,0.0002151993],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9902878,0.001097756,0.00492755,0.0002494852,0.00003993507,0.00002640272,0.0004722042,0.0001329463,0.002765893],"genre_scores_gemma":[0.996298,0.0003774993,0.001503398,0.00006919864,0.00001891866,0.00001604544,0.0001908517,0.00003075955,0.001495371],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002692702,"threshold_uncertainty_score":0.00900799,"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."}}