{"id":"W4210742233","doi":"10.1007/s40620-021-01236-2","title":"The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project","year":2022,"lang":"en","type":"article","venue":"Journal of Nephrology","topic":"Renal Diseases and Glomerulopathies","field":"Medicine","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Health Research Charities Ireland; Royal College of Surgeons in Ireland","keywords":"Medicine; Genetic testing; Kidney disease; PKD1; Nephrology; Internal medicine; Disease; Pediatrics; Intensive care medicine; Bioinformatics; Polycystic kidney disease","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":[0.0007519128,0.0001427185,0.0005530676,0.0001278071,0.0001994158,0.00000572006,0.0004341563,0.0000449558,0.0001571477],"category_scores_gemma":[0.002213644,0.0000813529,0.0004240919,0.0003496704,0.0005133171,0.00005674319,0.0002766074,0.0003791683,5.402711e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004480663,"about_ca_system_score_gemma":0.001675581,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000946974,"about_ca_topic_score_gemma":0.000002076222,"domain_scores_codex":[0.9976349,0.0002242574,0.001215,0.0001623084,0.0004985149,0.0002649998],"domain_scores_gemma":[0.9971391,0.0003683309,0.001484454,0.0004456123,0.0002986617,0.0002638385],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.007238453,0.0006040116,0.9076519,0.0005426407,0.0003452362,0.0001489378,0.002961505,0.00006420392,0.06850842,0.000006135551,0.008094397,0.003834157],"study_design_scores_gemma":[0.00192285,0.001192634,0.9903629,0.0001566201,0.0004145885,0.0004420799,0.001068035,0.0007522919,0.0003930026,0.0003099556,0.002904255,0.00008075379],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940395,0.004424466,0.00002263512,0.0006957998,0.0002379775,0.0004049918,0.00009682791,0.000004612073,0.00007324175],"genre_scores_gemma":[0.997676,0.0004312054,0.00039341,0.001297301,0.0001300246,0.00002203448,0.000001661226,0.00001579562,0.00003260903],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08271103,"threshold_uncertainty_score":0.3317475,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04517699315987411,"score_gpt":0.3150251338928637,"score_spread":0.2698481407329896,"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."}}