{"id":"W4408997841","doi":"10.3390/genes16040408","title":"Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic","year":2025,"lang":"en","type":"article","venue":"Genes","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Victoria Hospital; Population Health Research Institute; London Health Sciences Centre; Western University","funders":"Consortium for Graduate Study in Management","keywords":"Genetic testing; Medicine; Kidney disease; Disease; Population; Cohort; Guideline; Genetic counseling; Bioinformatics; Internal medicine; Pathology; Genetics; Biology","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":[0.0001190761,0.0001705526,0.000206627,0.00009571164,0.00004710982,0.00003223435,0.000182386,0.000128768,0.00002243882],"category_scores_gemma":[0.001232575,0.0001671811,0.00006500013,0.0002164108,0.0001256184,0.000002955559,0.0001632925,0.00009994813,0.00000509358],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002679513,"about_ca_system_score_gemma":0.0009252281,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009906503,"about_ca_topic_score_gemma":0.0007437909,"domain_scores_codex":[0.9986296,0.0000582286,0.0004191762,0.0005413966,0.00006939376,0.0002821477],"domain_scores_gemma":[0.9990023,0.0001594662,0.00008305338,0.0004123503,0.00004785636,0.000294923],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001803312,0.0001548743,0.9853578,0.00007841164,0.00003544882,0.00002683956,0.000009805393,0.0000731559,0.002659121,0.00001815737,0.001247367,0.01015874],"study_design_scores_gemma":[0.001651129,0.000161856,0.9843343,0.0002751976,0.00005566778,0.00000391221,0.000008870205,0.0001220046,0.0001066544,0.0001834422,0.01288927,0.0002077047],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9895686,0.0091125,0.00007625624,0.0003774186,0.0001406569,0.0004402033,0.0001281092,0.000009483818,0.0001467887],"genre_scores_gemma":[0.9905525,0.007086713,0.0007530289,0.0009557047,0.0002709698,0.00009009157,0.000109472,0.00002393761,0.0001575442],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01164191,"threshold_uncertainty_score":0.681745,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0146717588350576,"score_gpt":0.2940750872239806,"score_spread":0.279403328388923,"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."}}