{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.009267865,0.0004937088,0.0003639901,0.0007652926,0.001160501,0.001702922,0.001159992,0.0006589358,0.002051099],"category_scores_gemma":[0.008549001,0.0003514212,0.0004499142,0.0009596523,0.00170565,0.0009613064,0.002966117,0.0009834133,0.0006091383],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002516835,"about_ca_system_score_gemma":0.006486416,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02373543,"about_ca_topic_score_gemma":0.02661018,"domain_scores_codex":[0.9943529,0.002747344,0.0003363996,0.0008322851,0.0009032534,0.000827777],"domain_scores_gemma":[0.9858217,0.003264893,0.001748791,0.001241666,0.002402909,0.005520078],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008555678,0.0008467492,0.8312699,0.0002473613,0.0001086953,0.007955122,0.005938243,0.0009098275,0.003803534,0.0008164057,0.01172187,0.1355268],"study_design_scores_gemma":[0.0003669485,0.003352016,0.8935326,0.0008765425,0.0001732384,0.03682581,0.01367095,0.00411347,0.003377729,0.00144519,0.04195455,0.0003110103],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9785097,0.001709386,0.003962591,0.004381287,0.0001509389,0.0001917104,0.0007661315,0.0001396608,0.01018856],"genre_scores_gemma":[0.9832764,0.001585535,0.0104521,0.002263104,0.0001499011,0.0001102867,0.0006040842,0.000100372,0.001458328],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02373543,"threshold_uncertainty_score":0.04901373,"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."}}