{"id":"W2027934385","doi":"10.1086/318794","title":"Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci","year":2001,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":85,"is_retracted":false,"has_abstract":false,"ca_institutions":"Simon Fraser University; Memorial University of Newfoundland","funders":"National Eye Institute; Wellcome Trust","keywords":"Bardet–Biedl syndrome; Polydactyly; Genetics; Biology; Genetic heterogeneity; Pedigree chart; Locus (genetics); Allelic heterogeneity; Haplotype; Allele; Phenotype; 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":[0.000396097,0.0001419219,0.0003646695,0.00005849325,0.0000573352,0.000008522808,0.0002474269,0.00003271463,0.00002208618],"category_scores_gemma":[0.0001177885,0.00008942821,0.0001425748,0.00009281631,0.001054154,0.000002472123,0.0001184774,0.00007619953,1.561358e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005146102,"about_ca_system_score_gemma":0.00008688866,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004433369,"about_ca_topic_score_gemma":0.00001565119,"domain_scores_codex":[0.9985664,0.0002204544,0.0006477492,0.0001420411,0.0002577425,0.0001655386],"domain_scores_gemma":[0.9986107,0.00007216912,0.0005827098,0.0002594121,0.0003707384,0.000104206],"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":[0.0003986905,0.0002851159,0.1545071,0.00009118431,0.0007150766,0.000006811451,0.0007625248,0.0003906538,0.8395029,0.00001547156,0.0005661743,0.002758343],"study_design_scores_gemma":[0.001610525,0.004009253,0.7913805,0.0001209559,0.001155934,0.0002166094,0.003184128,0.0004369319,0.1965036,0.0006073038,0.0005104573,0.0002637942],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9899268,0.008125632,0.001544029,0.0001924958,0.00002023399,0.0001216667,0.00005016383,8.235506e-7,0.00001818275],"genre_scores_gemma":[0.996347,0.0008303128,0.002362677,0.0003074784,0.00009752529,0.000003346285,0.0000042247,0.00001579166,0.00003171921],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6429994,"threshold_uncertainty_score":0.3884076,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02744491178539622,"score_gpt":0.348323192327437,"score_spread":0.3208782805420408,"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."}}