{"id":"W4406989297","doi":"10.1007/s40620-025-02211-x","title":"The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease","year":2025,"lang":"en","type":"article","venue":"Journal of Nephrology","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kingston General Hospital; Queen's University","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Medical Research Council; Department of Health and Social Care; Irish Research Council; National Institute for Health and Care Research; Health Research Board; Science Foundation Ireland; Foundation for the National Institutes of Health; Cancer Research UK; Wellcome Trust; Health Research Charities Ireland; Royal College of Surgeons in Ireland; National Institutes of Health; Irish Nephrology Society","keywords":"PKD1; Autosomal dominant polycystic kidney disease; Medicine; Polycystic kidney disease; Internal medicine; Kidney disease; Hazard ratio; Phenotype; Nephrology; Tolvaptan; Disease; Confidence interval; Endocrinology; Genetics; Gene; Biology; Heart failure","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":[0.001445241,0.0003854882,0.0004343696,0.0006342416,0.0004959893,0.0008139093,0.0003947701,0.0005607345,0.001997104],"category_scores_gemma":[0.005183744,0.0001620483,0.0008592845,0.0005539319,0.0004873424,0.000367572,0.0005080713,0.001164074,0.000199771],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002428165,"about_ca_system_score_gemma":0.0003314331,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001556735,"about_ca_topic_score_gemma":0.001731505,"domain_scores_codex":[0.9989671,0.0003302322,0.00009073129,0.0002601743,0.0002122353,0.0001396474],"domain_scores_gemma":[0.9934313,0.002437077,0.002362514,0.0004013899,0.000471058,0.0008967497],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007816118,0.00005459882,0.9937862,0.00002976832,0.000203063,0.0007803623,0.00003547761,0.0001422908,0.0009181583,0.00005747327,0.00008668005,0.003124334],"study_design_scores_gemma":[0.00001440474,0.0002457347,0.9958178,0.00001473916,0.0001461592,0.002863611,0.00004253074,0.0003870126,0.000226829,0.00009222649,0.0001432041,0.000005896017],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982863,0.000754666,0.0001525774,0.00006643953,0.00001466629,0.000004374007,0.0001220118,0.000006228373,0.0005927117],"genre_scores_gemma":[0.9997162,0.00007814636,0.00005058918,0.00001235369,0.00001836203,0.000001416709,0.00007153279,0.000001977769,0.00004935915],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001997104,"threshold_uncertainty_score":0.007643223,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004211475797133591,"score_gpt":0.2734955749097179,"score_spread":0.2692840991125843,"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."}}