{"id":"W2528604718","doi":"10.1038/srep34764","title":"Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum","year":2016,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":39,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"Stichting Nederlands Oogheelkundig Onderzoek; Radboud Universitair Medisch Centrum; Stichting Blindenhulp; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Nierstichting; Pakistan Academy of Sciences; Radboud Universiteit; ZonMw; Deutsche Forschungsgemeinschaft; Stichting A.F. Deutman Oogheelkunde Researchfonds; E-Rare","keywords":"Bardet–Biedl syndrome; Ciliopathy; Genetics; Genetic heterogeneity; Phenotype; Biology; Nephronophthisis; Genetic counseling; Gene; Exome sequencing; Ciliopathies; Human genetics; Mutation; Cilium","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":[0.0003580936,0.0007818368,0.0003901275,0.001425544,0.0008111374,0.0004387356,0.0003405376,0.0005986477,0.002035294],"category_scores_gemma":[0.001370777,0.000289826,0.0002510202,0.0007889798,0.001014099,0.0002862678,0.0006755991,0.0003410006,0.0002990661],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003862244,"about_ca_system_score_gemma":0.0004812865,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002860663,"about_ca_topic_score_gemma":0.002500776,"domain_scores_codex":[0.9995657,0.00007997629,0.00005420557,0.0001343756,0.00009623735,0.00006953923],"domain_scores_gemma":[0.9994148,0.000213958,0.0001406503,0.00003633755,0.00005224125,0.0001420251],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009572095,0.0003058445,0.6567644,0.0001439993,0.0001035804,0.2507294,0.002835185,0.0009778852,0.06066604,0.001136779,0.0006709241,0.02470871],"study_design_scores_gemma":[0.00008969051,0.000342445,0.6454611,0.00004870648,0.00008272327,0.3440712,0.001252294,0.0009325736,0.004828548,0.0004601476,0.002377732,0.00005279708],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998142,0.0001419254,0.0002967151,0.00008380057,0.000005129144,0.00001545589,0.0001773173,0.000009451843,0.00112825],"genre_scores_gemma":[0.9988976,0.000165062,0.0005559564,0.00005995554,0.000010253,0.000009148342,0.0001293179,0.000004678843,0.0001680776],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002860663,"threshold_uncertainty_score":0.006808698,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006324165452498427,"score_gpt":0.2313749648931591,"score_spread":0.2250507994406607,"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."}}