{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002944107,0.0003274835,0.0003770974,0.0005682782,0.00210555,0.000772359,0.0009068741,0.004166139,0.002051382],"category_scores_gemma":[0.002227082,0.0002574717,0.0003697313,0.0006321411,0.001436373,0.0004067813,0.0004733954,0.002787102,0.0006657528],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003047135,"about_ca_system_score_gemma":0.001651711,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1574928,"about_ca_topic_score_gemma":0.1513496,"domain_scores_codex":[0.9996005,0.00004752588,0.00004756238,0.00008686582,0.00009376889,0.0001237777],"domain_scores_gemma":[0.9988267,0.0003773513,0.0001198098,0.00009205553,0.0002575318,0.0003265545],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002034945,0.00003888389,0.110127,0.00004804437,0.00003938255,0.8450655,0.001524525,0.0002035065,0.003346363,0.0005867746,0.03064694,0.008169525],"study_design_scores_gemma":[0.00009560082,0.0001259566,0.1114325,0.0001121645,0.00008556675,0.8532231,0.002564328,0.00122076,0.002078613,0.001057389,0.02790532,0.00009863505],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"editorial","genre_scores_codex":[0.8088064,0.003002749,0.0007190986,0.1492025,0.003028734,0.00007233089,0.000677775,0.0001491953,0.03434125],"genre_scores_gemma":[0.9690042,0.0007370465,0.0003219548,0.02077318,0.001240182,0.00001353621,0.0001478393,0.00003268151,0.007729354],"genre_candidate":"editorial","genre_consensus":null,"teacher_disagreement_score":0.8425072,"threshold_uncertainty_score":0.3131521,"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."}}