{"id":"W1992992943","doi":"10.1007/s00439-010-0804-9","title":"Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease","year":2010,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":132,"is_retracted":false,"has_abstract":false,"ca_institutions":"Memorial University of Newfoundland","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Diabetes and Digestive and Kidney Diseases","keywords":"Genetics; Biology; Bardet–Biedl syndrome; Missense mutation; Disease gene identification; Mutation; Allele; Gene; Genetic heterogeneity; Ciliopathies; Compound heterozygosity; Exome sequencing; Phenotype","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":[0.0002121939,0.0001494323,0.0001417616,0.00008875139,0.0001017194,0.00002869171,0.0005079735,0.00008790796,0.00001505415],"category_scores_gemma":[0.0001122339,0.0001165258,0.00008786917,0.0001653409,0.0003060434,0.000004895,0.00007274534,0.000101342,0.000002603238],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005791719,"about_ca_system_score_gemma":0.0001257331,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000315421,"about_ca_topic_score_gemma":0.0001506561,"domain_scores_codex":[0.9986999,0.0001072726,0.0004997791,0.0002922428,0.000212255,0.0001885384],"domain_scores_gemma":[0.9987415,0.00002763781,0.0001989604,0.0007668923,0.0001752755,0.0000897032],"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":[0.00001853615,0.0002508989,0.005480485,0.00003277485,0.00001968551,0.000006400429,0.0008528552,0.01269594,0.9803363,0.0001151267,0.00001633036,0.0001746461],"study_design_scores_gemma":[0.001122055,0.0003354115,0.7914923,0.00003186935,0.0001862446,0.00005175392,0.001962928,0.003132968,0.1987011,0.001956957,0.000654476,0.0003718575],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981713,0.000536,0.000388827,0.0001321401,0.00007210994,0.000501243,0.0001727086,0.000004234283,0.00002140733],"genre_scores_gemma":[0.9990487,0.00005224199,0.0003033988,0.0000779961,0.00007495863,0.00008337379,0.0002993733,0.00002209945,0.00003789106],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7860119,"threshold_uncertainty_score":0.4751785,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01690205741292288,"score_gpt":0.2784500408373644,"score_spread":0.2615479834244415,"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."}}