{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002353262,0.0007338959,0.0003483629,0.0007822381,0.0002363784,0.0003254132,0.0003271483,0.000585437,0.004294634],"category_scores_gemma":[0.0004664219,0.000179959,0.0003461241,0.0003654623,0.0002988335,0.000149397,0.0002291966,0.0004421508,0.0001612297],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002213469,"about_ca_system_score_gemma":0.0002142165,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006991252,"about_ca_topic_score_gemma":0.0007138565,"domain_scores_codex":[0.9997922,0.00005941268,0.0000238953,0.00005229957,0.0000502517,0.00002199251],"domain_scores_gemma":[0.9997254,0.00007287952,0.0001081292,0.000009676513,0.0000122509,0.00007164712],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.003608308,0.0001787587,0.3249282,0.0002678666,0.0004091378,0.0142062,0.0002408919,0.001026587,0.6386113,0.0009448468,0.0005825636,0.01499532],"study_design_scores_gemma":[0.0002175431,0.0007539863,0.8484007,0.0001209974,0.0008117082,0.03272686,0.000296281,0.005063683,0.1079916,0.0007212016,0.00285768,0.00003788247],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978058,0.000528986,0.0008614514,0.0001567859,0.00001493512,0.000008706132,0.0002165008,0.00003243165,0.0003745018],"genre_scores_gemma":[0.9984739,0.0001471914,0.0008468371,0.00003447669,0.00001070664,0.00000726815,0.0001507166,0.000007671778,0.0003211159],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004294634,"threshold_uncertainty_score":0.01436698,"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."}}