{"id":"W4397042591","doi":"10.1681/asn.20233411s1940b","title":"Case Report: Mosaic TSC2/PKD1 Contiguous Gene Deletion Syndrome","year":2023,"lang":"en","type":"article","venue":"Journal of the American Society of Nephrology","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; Population Health Research Institute; University of British Columbia","funders":"","keywords":"PKD1; Mosaic; Genetics; Gene; Biology; Medicine; Computational biology; History; Kidney","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":[0.0003188377,0.002211713,0.001027523,0.001920912,0.001803384,0.001025329,0.001168848,0.003832487,0.003103063],"category_scores_gemma":[0.001976476,0.0009219421,0.0009538315,0.001654582,0.001555329,0.001256924,0.001959307,0.00184383,0.0009070202],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009291087,"about_ca_system_score_gemma":0.0007871024,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0020522,"about_ca_topic_score_gemma":0.001731892,"domain_scores_codex":[0.9993136,0.00005523735,0.00006794219,0.000256351,0.000105034,0.0002018853],"domain_scores_gemma":[0.998984,0.0002488685,0.0002152964,0.0001072094,0.00006670743,0.0003778992],"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":[0.00002901048,0.00002089204,0.004845825,0.00001727623,0.000009209612,0.9928028,0.0001138953,0.00009493158,0.0007847737,0.0001808267,0.0002276578,0.0008729987],"study_design_scores_gemma":[0.00001059818,0.00002088946,0.001802531,0.00000501644,0.000004680435,0.9975485,0.00003604765,0.00009516213,0.0001656844,0.00009240492,0.0002137757,0.000004737324],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9811339,0.002083966,0.003064412,0.002017716,0.0001902783,0.000197505,0.0006266456,0.0002453418,0.01044025],"genre_scores_gemma":[0.9969066,0.0003899655,0.001147187,0.0003174813,0.0002243572,0.00003077335,0.0001471484,0.00001986252,0.0008167174],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003832487,"threshold_uncertainty_score":0.01038074,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01279331885789743,"score_gpt":0.2587693683344449,"score_spread":0.2459760494765474,"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."}}