{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002388221,0.0005460872,0.0004000919,0.001428109,0.0005071039,0.0003938634,0.0003088406,0.0005668703,0.004249556],"category_scores_gemma":[0.0007789116,0.0002441115,0.0007233646,0.001104031,0.0004870094,0.0002142517,0.0007706526,0.0006668904,0.0002647427],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001601682,"about_ca_system_score_gemma":0.0002156552,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001365465,"about_ca_topic_score_gemma":0.00154646,"domain_scores_codex":[0.9995224,0.000101157,0.0000619403,0.0001523316,0.00008323864,0.00007884785],"domain_scores_gemma":[0.9988066,0.0002121227,0.0006687678,0.00007575162,0.00004149711,0.0001952022],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003581055,0.000293354,0.5692883,0.0001826596,0.001105181,0.01659788,0.0003883161,0.0007779919,0.3920758,0.001077611,0.0006015964,0.0140303],"study_design_scores_gemma":[0.00004834856,0.0001714625,0.98024,0.00002774159,0.0004389141,0.01129888,0.000178261,0.001142772,0.005231971,0.0004266418,0.0007640624,0.00003077853],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985493,0.0002101422,0.000578845,0.00006701455,0.00001206185,0.000005916938,0.0002244435,0.00002126841,0.0003310367],"genre_scores_gemma":[0.9989852,0.00009325615,0.0003154297,0.00003438081,0.00001228078,0.000006056704,0.0001777778,0.00001259614,0.0003629935],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004249556,"threshold_uncertainty_score":0.01421613,"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."}}