{"id":"W4288855514","doi":"10.1093/ecco-jcc/jjac103","title":"Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease","year":2022,"lang":"en","type":"review","venue":"Journal of Crohn s and Colitis","topic":"Inflammatory Bowel Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto; SickKids Foundation","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; NIHR Great Ormond Street Hospital Biomedical Research Centre; NIHR Oxford Biomedical Research Centre; Medical Research Council; National Institutes of Health; Cancer Research UK; Wellcome Trust; Canadian Institutes of Health Research; National Institute for Health and Care Research; Regeneron Pharmaceuticals; Leona M. and Harry B. Helmsley Charitable Trust","keywords":"Haploinsufficiency; Medicine; Penetrance; Copy-number variation; Inflammatory bowel disease; Genetics; Trisomy; Bioinformatics; Disease; Biology; Phenotype; Internal medicine; Gene; Genome","routes":{"ca_aff":true,"ca_fund":true,"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":[0.001600387,0.0003003462,0.001115457,0.002879818,0.0001836276,0.000751282,0.0005356651,0.000506064,0.001478467],"category_scores_gemma":[0.01157098,0.0001729933,0.0009831552,0.005738052,0.0004724046,0.0005377498,0.0003643039,0.0004019067,0.00009956772],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002869695,"about_ca_system_score_gemma":0.000355612,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001439612,"about_ca_topic_score_gemma":0.002248902,"domain_scores_codex":[0.9980569,0.000535339,0.0004407788,0.0005631043,0.0003562859,0.00004742178],"domain_scores_gemma":[0.9878969,0.006949797,0.004358533,0.0002714495,0.0003858506,0.0001375233],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001441663,0.0000271811,0.897385,0.01815427,0.01216771,0.00139904,0.000236154,0.0007412963,0.001361847,0.0004264938,0.001343069,0.06531614],"study_design_scores_gemma":[0.0001557636,0.000240093,0.9707502,0.003258508,0.01053524,0.007329888,0.000162023,0.0004506183,0.000433901,0.00112508,0.005517183,0.00004156991],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.3572775,0.6321602,0.001277072,0.00102497,0.000119082,0.00005561269,0.006400208,0.00003523951,0.001650155],"genre_scores_gemma":[0.9345931,0.06149964,0.001199709,0.0003017323,0.0001699984,0.00005391344,0.002021644,0.000007652162,0.0001525627],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002879818,"threshold_uncertainty_score":0.00846374,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006953670439200994,"score_gpt":0.2448183419322286,"score_spread":0.2378646714930276,"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."}}