{"id":"W2912706849","doi":"10.1002/hep.30515","title":"Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome","year":2019,"lang":"en","type":"article","venue":"Hepatology","topic":"Pediatric Hepatobiliary Diseases and Treatments","field":"Medicine","cited_by":84,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institutes of Health; Hospital for Sick Children; Children's Healthcare of Atlanta; National Center for Research Resources; Georgia Clinical and Translational Science Alliance; Seattle Children's Research Institute; American Gastroenterological Association; Johns Hopkins Children's Center; National Institute of Diabetes and Digestive and Kidney Diseases; Johns Hopkins University; Children's Hospital of Pittsburgh; National Center for Advancing Translational Sciences; National Human Genome Research Institute; Children's Hospital Colorado; Texas Children's Hospital; Cincinnati Children's Hospital Medical Center; Emory University; School of Medicine, Emory University; University of Michigan; University of California, San Francisco; Children's Hospital of Philadelphia","keywords":"Biliary atresia; Polydactyly; Biology; Alagille syndrome; Population; Exome sequencing; Polycystic kidney disease; Liver disease; Situs inversus; Pathology; Polysplenia; Internal medicine; Gastroenterology; Medicine; Kidney; Liver transplantation; Endocrinology; Cholestasis; Transplantation; Genetics; Mutation; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003006453,0.0008364182,0.0005719081,0.001805331,0.0007537356,0.0005327787,0.0004032908,0.001006032,0.001453852],"category_scores_gemma":[0.001674484,0.0003792501,0.0003980633,0.001137879,0.0006325853,0.0002670822,0.0006390778,0.0005608323,0.0002117573],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003163431,"about_ca_system_score_gemma":0.00037795,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0028353,"about_ca_topic_score_gemma":0.00266828,"domain_scores_codex":[0.9995344,0.00004818988,0.00005473622,0.0001827259,0.0001129363,0.00006706882],"domain_scores_gemma":[0.9995061,0.0001577504,0.000156076,0.00002291349,0.00004304597,0.0001141517],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003028312,0.00006587677,0.9324964,0.00005781029,0.00006571745,0.03816452,0.0009514899,0.0003456718,0.02190951,0.000284745,0.0004134192,0.004942087],"study_design_scores_gemma":[0.00003244239,0.0002094216,0.9241291,0.00003806071,0.00009163585,0.0696508,0.0005461163,0.0006595881,0.003242134,0.0002009625,0.001178729,0.00002107976],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990087,0.0001387691,0.0001812455,0.00005501308,0.000006015784,0.00001278367,0.0003202005,0.0000111975,0.0002658974],"genre_scores_gemma":[0.9988438,0.0001444813,0.0005077936,0.00004843247,0.000008539045,0.00001317165,0.0003322763,0.000007235888,0.00009415214],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0028353,"threshold_uncertainty_score":0.005637527,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005110052966220215,"score_gpt":0.2242504991852924,"score_spread":0.2191404462190722,"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."}}