{"id":"W2397034582","doi":"10.1016/j.jcmgh.2016.05.013","title":"THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome","year":2016,"lang":"en","type":"article","venue":"Cellular and Molecular Gastroenterology and Hepatology","topic":"Pediatric Hepatobiliary Diseases and Treatments","field":"Medicine","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; University of Toronto; Hospital for Sick Children","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of Diabetes and Digestive and Kidney Diseases; National Human Genome Research Institute; National Institutes of Health; Children's Hospital of Philadelphia; U.S. Department of Veterans Affairs","keywords":"JAG1; Alagille syndrome; Biology; Primary sclerosing cholangitis; Phenotype; Genome-wide association study; Notch signaling pathway; Locus (genetics); Cholestasis; Liver disease; Cancer research; Candidate gene; Bile duct; Exome; Genetics; Internal medicine; Endocrinology; Pathology; Disease; Gene; Medicine; Exome sequencing; Single-nucleotide polymorphism; Genotype","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007391243,0.0001654495,0.0004246543,0.0001297585,0.00002969923,0.000002273948,0.00004489623,0.0001117563,0.00008076944],"category_scores_gemma":[0.00001974892,0.0001193246,0.00008474873,0.00004612383,0.0002631534,0.00004024544,0.00008527071,0.00007979666,0.000004723558],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001872389,"about_ca_system_score_gemma":0.00005044655,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000173181,"about_ca_topic_score_gemma":0.00004909873,"domain_scores_codex":[0.9988956,0.0001103513,0.0002313459,0.0003645894,0.00007763616,0.0003204384],"domain_scores_gemma":[0.9993747,0.00002186096,0.00005926091,0.00022425,0.00002807086,0.0002918733],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001008208,0.0002577988,0.9908868,0.0001001248,0.0001094944,0.004489062,0.00004474389,7.657472e-8,0.002281225,0.0001082736,0.00006228971,0.0006518753],"study_design_scores_gemma":[0.005155544,0.0007427037,0.990662,0.00005560778,0.0004131762,0.0007601519,0.00000835596,0.0002485669,0.001028886,0.0004888483,0.0003210351,0.0001151351],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957813,0.002121483,0.0005404284,0.001162818,0.00003572234,0.0002303384,0.00008015212,0.00001046138,0.00003729263],"genre_scores_gemma":[0.9970036,0.001675733,0.00006972084,0.001124377,0.00000699757,0.00002327663,0.00002249625,0.00001172621,0.00006212609],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004147336,"threshold_uncertainty_score":0.4865915,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005997543556659767,"score_gpt":0.2168574721077764,"score_spread":0.2108599285511166,"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."}}