{"id":"W4385729393","doi":"10.1016/j.jhep.2023.07.039","title":"Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes","year":2023,"lang":"en","type":"article","venue":"Journal of Hepatology","topic":"Pediatric Hepatobiliary Diseases and Treatments","field":"Medicine","cited_by":30,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Institutes of Health; National Heart, Lung, and Blood Institute; Hospital for Sick Children; National Institute of Biomedical Imaging and Bioengineering; Hillman Foundation; Children's Healthcare of Atlanta; National Center for Research Resources; Seattle Children's Research Institute; Medical Center, University of Pittsburgh; Children's Hospital Los Angeles; University of Pittsburgh; Children's Hospital of Pittsburgh; National Center for Advancing Translational Sciences; Children's Hospital Colorado; Texas Children's Hospital; Cincinnati Children's Hospital Medical Center; University of Michigan; University of California, San Francisco; Children's Hospital of Philadelphia","keywords":"Ciliogenesis; Genome-wide association study; Biology; Single-nucleotide polymorphism; Genetics; Biliary atresia; Phenocopy; Candidate gene; Transcriptome; Allele; Liver transplantation; Gene; Transplantation; Genotype; Internal medicine; Phenotype; Medicine; Gene expression","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004508518,0.0001779873,0.0006793261,0.0004565699,0.0000515264,0.00000800419,0.00007636288,0.0001712588,0.00006415419],"category_scores_gemma":[0.0002449918,0.0001250768,0.0001546795,0.0006266357,0.00009440554,0.00008402858,0.00002979959,0.0001993067,0.0000153847],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001564563,"about_ca_system_score_gemma":0.0003809776,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004269979,"about_ca_topic_score_gemma":0.0006418331,"domain_scores_codex":[0.9984535,0.0002262582,0.0004791478,0.0002408358,0.000263576,0.0003366928],"domain_scores_gemma":[0.9988372,0.0003581506,0.0002265718,0.0001958745,0.000113005,0.0002692332],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008282319,0.0003741847,0.9922981,0.00006853594,0.0003384562,0.002951604,0.00006654958,7.94762e-7,0.0006929882,0.000001112903,0.0007548316,0.001624567],"study_design_scores_gemma":[0.002768266,0.001017696,0.994273,0.00004993372,0.0004584136,0.000702041,0.00004528039,0.0001243556,0.0002751321,0.00007872053,0.0001012684,0.000105879],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952709,0.003251191,0.000001779379,0.001048156,0.00009387836,0.0002128666,0.00007142757,0.00002682002,0.00002295876],"genre_scores_gemma":[0.9983788,0.001149884,0.00007307567,0.0002388777,0.00006863067,0.000004415152,0.00002551455,0.00001733233,0.00004349861],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003107849,"threshold_uncertainty_score":0.5100484,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01572562882203601,"score_gpt":0.2704120165832214,"score_spread":0.2546863877611855,"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."}}