{"id":"W4381598513","doi":"10.1097/mpg.0000000000003873","title":"Exome Sequencing Implicates <i>DGKZ</i>, <i>ESRRA</i>, and <i>GXYLT1</i> for Modulating Granuloma Formation in Crohn Disease","year":2023,"lang":"en","type":"article","venue":"Journal of Pediatric Gastroenterology and Nutrition","topic":"Inflammatory Bowel Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Crohn's and Colitis Foundation; AbbVie; Takeda Pharmaceuticals U.S.A.; Pfizer; Eli Lilly and Company","keywords":"Exome sequencing; Single-nucleotide polymorphism; Haplotype; Exome; Genetics; Medicine; Genetic association; Allele frequency; Human leukocyte antigen; Population; Crohn's disease; Allele; Genotype; Disease; Biology; Phenotype; Gene; Pathology; Antigen","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":[0.000212238,0.0002715476,0.0002399027,0.0003524463,0.0001853858,0.000372286,0.0001604892,0.0003076131,0.001797489],"category_scores_gemma":[0.0004549087,0.0001079558,0.0002995695,0.0003382945,0.0002248739,0.000203609,0.0001982842,0.0002912565,0.0002443481],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001753882,"about_ca_system_score_gemma":0.0001201113,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003014228,"about_ca_topic_score_gemma":0.0006644882,"domain_scores_codex":[0.9999052,0.0000184991,0.00001115604,0.00003539176,0.00001647674,0.000013184],"domain_scores_gemma":[0.9997988,0.00007394959,0.00007555338,0.00001947696,0.000009518293,0.00002269119],"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":[0.001734484,0.00007665525,0.2230717,0.0003167705,0.0002017797,0.003065191,0.0002467922,0.001297677,0.7354583,0.0005615805,0.0009143124,0.03305483],"study_design_scores_gemma":[0.0001436252,0.0004974044,0.8388731,0.00009840105,0.0003720469,0.01103046,0.0003008635,0.002920482,0.1381169,0.001175062,0.00644472,0.0000267873],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959013,0.0007707137,0.001167029,0.0001278794,0.000008035781,0.00001069874,0.001456667,0.00003082091,0.000526739],"genre_scores_gemma":[0.9966682,0.0004441198,0.001205441,0.0000770756,0.000006244317,0.0000110695,0.001197311,0.00001188748,0.0003787038],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001797489,"threshold_uncertainty_score":0.006013215,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01080236827313127,"score_gpt":0.2382236572784755,"score_spread":0.2274212890053442,"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."}}