{"id":"W7118003340","doi":"10.1007/978-3-032-04095-4_7","title":"Bardet-Biedl Syndrome","year":2025,"lang":"en","type":"book-chapter","venue":"","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"St. Thomas Hospital","funders":"","keywords":"Ciliopathy; Polydactyly; Ciliopathies; Disease; Autosomal Recessive Polycystic Kidney Disease; Tubulopathy; Autosomal recessive inheritance; Nephronophthisis","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":[0.000103665,0.0006706773,0.0004162258,0.0008925156,0.0003210859,0.0007021072,0.000530397,0.000896471,0.02974151],"category_scores_gemma":[0.0002015532,0.0001901414,0.0001928241,0.0006034094,0.0003826646,0.0006213176,0.0005865375,0.00108377,0.01541144],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003454733,"about_ca_system_score_gemma":0.000245268,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006085592,"about_ca_topic_score_gemma":0.00170354,"domain_scores_codex":[0.999933,0.00000777838,0.000003619201,0.0000103572,0.00003602979,0.000009338919],"domain_scores_gemma":[0.9999601,0.00001879256,0.000003426148,0.000003143833,0.000006581966,0.000007954251],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00007894041,0.00006966214,0.0003810378,0.0003813821,0.0000222706,0.01236113,0.0001874734,0.0006016118,0.007551262,0.1127998,0.3614008,0.5041646],"study_design_scores_gemma":[0.000008722993,0.00001585437,0.000535343,0.0001344938,0.000007252901,0.02661695,0.00003160047,0.000168713,0.0007569216,0.01700026,0.9547123,0.00001154664],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"other","genre_gemma":"other","genre_scores_codex":[0.00452195,0.1007131,0.01160757,0.004060481,0.004797671,0.00005540707,0.0005252411,0.0005502845,0.8731683],"genre_scores_gemma":[0.02119473,0.04175818,0.008033845,0.002451144,0.001067345,0.00006947282,0.00044317,0.0001690048,0.9248131],"genre_candidate":"other","genre_consensus":"other","teacher_disagreement_score":0.02974151,"threshold_uncertainty_score":0.09949523,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005287124515965101,"score_gpt":0.208610899423846,"score_spread":0.2033237749078809,"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."}}