{"id":"W4386085228","doi":"10.1111/cge.14418","title":"Recurrence of a <scp> <i>BBS1</i> </scp> variant in <scp>Bardet–Biedl</scp> patients from Prince Edward Island","year":2023,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Izaak Walton Killam Health Centre; Dalhousie University","funders":"Dalhousie University","keywords":"Bardet–Biedl syndrome; Genetics; Medicine; Biology; Pediatrics; Gene; Phenotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","research_integrity"],"consensus_categories":[],"category_scores_codex":[0.0005560181,0.0007855718,0.001205981,0.0001458266,0.00006779193,0.00006230405,0.001367375,0.002426709,0.00001495802],"category_scores_gemma":[0.006478066,0.000785966,0.000649974,0.0003350832,0.0005150666,0.000004262781,0.000944623,0.001424612,0.0001793032],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002800312,"about_ca_system_score_gemma":0.0007557853,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004308019,"about_ca_topic_score_gemma":0.00007824117,"domain_scores_codex":[0.9937284,0.0006002616,0.002166452,0.001758469,0.0007462431,0.001000202],"domain_scores_gemma":[0.9951741,0.001341603,0.0009644957,0.001699027,0.0003994681,0.0004213027],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001684812,0.0004329207,0.075201,0.0002117373,0.0002423348,0.0001558593,0.00008344444,0.00005370929,0.0006700447,6.417569e-7,0.921573,0.001358429],"study_design_scores_gemma":[0.001975633,0.0009531036,0.075355,0.0003130265,0.0002789411,0.000004244122,0.00005764345,0.00005839021,0.003109846,0.0004449975,0.9172038,0.0002453192],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"commentary","genre_scores_codex":[0.9743177,0.00631165,0.000603966,0.003669119,0.004799818,0.001544232,0.006452836,0.00006742256,0.002233205],"genre_scores_gemma":[0.3426237,0.07528124,0.01325892,0.4471711,0.03661434,0.000852999,0.05144315,0.00177313,0.03098144],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.6316941,"threshold_uncertainty_score":0.9994591,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0228974379422815,"score_gpt":0.2914565319371056,"score_spread":0.2685590939948241,"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."}}