{"id":"W3162519286","doi":"10.1097/mpg.0000000000003153","title":"Mutation Analysis and Disease Features at Presentation in a Multi‐Center Cohort of Children With Monogenic Cholestasis","year":2021,"lang":"en","type":"article","venue":"Journal of Pediatric Gastroenterology and Nutrition","topic":"Drug Transport and Resistance Mechanisms","field":"Medicine","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Center for Advancing Translational Sciences; National Center for Research Resources; National Institute of General Medical Sciences; University of California, San Francisco; Georgia Clinical and Translational Science Alliance; National Institutes of Health; National Institute of Diabetes and Digestive and Kidney Diseases; Women's Foundation of Colorado","keywords":"Medicine; Cohort; Cholestasis; Presentation (obstetrics); Mutation; Pediatrics; Disease; Mutation testing; Cohort study; Genetics; Internal medicine; Surgery; Gene","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":[0.0006361234,0.0003715492,0.000353978,0.001082761,0.0004872985,0.0005662436,0.000498544,0.0004968601,0.001577324],"category_scores_gemma":[0.00200085,0.0003317954,0.000330715,0.0008195193,0.0002886849,0.0004940842,0.0005733876,0.0004205231,0.0002441513],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000272725,"about_ca_system_score_gemma":0.0002926245,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002989735,"about_ca_topic_score_gemma":0.003063156,"domain_scores_codex":[0.9994401,0.0001041018,0.00006491959,0.0002077223,0.0001005375,0.00008257478],"domain_scores_gemma":[0.9989251,0.0001691318,0.0005346133,0.00008338295,0.0001018219,0.0001859068],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00004275056,0.000009084698,0.9991269,0.000002124302,0.00001417105,0.0001443571,0.00003974618,0.00001413877,0.0003171375,0.000005404607,0.00002896195,0.0002552213],"study_design_scores_gemma":[0.000006755648,0.00007461802,0.9975013,0.000004222314,0.00001602537,0.001915918,0.0001690087,0.0001064454,0.0001131968,0.000008317787,0.00008132777,0.000002818887],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999661,0.00004794623,0.00003682853,0.00000988126,0.000001256592,0.00000357487,0.0001636489,0.00000185522,0.00007396104],"genre_scores_gemma":[0.9995613,0.00003371134,0.00008453799,0.00001018949,0.000003452824,0.000008870907,0.0002527458,0.000001722778,0.00004347802],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002989735,"threshold_uncertainty_score":0.005944669,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005850597931122634,"score_gpt":0.2391830259659946,"score_spread":0.233332428034872,"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."}}