{"id":"W2801597931","doi":"10.3389/fped.2018.00131","title":"The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis","year":2018,"lang":"en","type":"article","venue":"Frontiers in Pediatrics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"Nierstichting; National Institute for Health and Care Research","keywords":"Medicine; Nephronophthisis; Genetic diagnosis; Pediatrics; Intensive care medicine; Genetics; Gene; Phenotype; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0281857,0.001310349,0.001318942,0.005177015,0.001739508,0.006815835,0.003233703,0.003040095,0.02568278],"category_scores_gemma":[0.02822113,0.000432387,0.001543309,0.003968966,0.001453924,0.00268375,0.01054657,0.002526497,0.008540837],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003258698,"about_ca_system_score_gemma":0.01762385,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008197984,"about_ca_topic_score_gemma":0.007607317,"domain_scores_codex":[0.9869449,0.005112151,0.000881722,0.001673789,0.00388721,0.001500184],"domain_scores_gemma":[0.9692257,0.006752145,0.002388623,0.003374585,0.006720202,0.01153875],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.003176898,0.0005471154,0.01434712,0.001893106,0.000432156,0.00184617,0.0009334969,0.001385395,0.007968804,0.02073574,0.6425206,0.3042134],"study_design_scores_gemma":[0.001289162,0.0003679842,0.01134668,0.001799309,0.0004224197,0.001266327,0.0004798929,0.001096692,0.003806669,0.006467863,0.9715397,0.0001173505],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.1291166,0.1260068,0.05728707,0.2449855,0.02187444,0.005489336,0.1795823,0.01148792,0.2241701],"genre_scores_gemma":[0.2751039,0.05669637,0.1524166,0.05082831,0.009283746,0.009617255,0.3197533,0.01136765,0.114933],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.0281857,"threshold_uncertainty_score":0.149062,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009752672499205025,"score_gpt":0.2325178703233422,"score_spread":0.2227651978241372,"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."}}