{"id":"W2088848325","doi":"10.1086/429841","title":"Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome","year":2005,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":259,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital; Queen's University; Kingston Health Sciences Centre; University of Alberta","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","keywords":"Genetics; Deletion syndrome; Phenotype; Fragile X syndrome; Polymerase chain reaction; Biology; Cohort; Gene duplication; Medicine; Pathology; Gene","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":[0.0001988034,0.001655828,0.0007596731,0.001940865,0.0006789865,0.0005376071,0.0006467384,0.001122967,0.001994118],"category_scores_gemma":[0.001405333,0.0004643779,0.0003205968,0.001191744,0.0009074883,0.0002663143,0.0008863499,0.0009535999,0.0003645178],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002978576,"about_ca_system_score_gemma":0.0003350299,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001015213,"about_ca_topic_score_gemma":0.001671429,"domain_scores_codex":[0.9994178,0.0000722119,0.00005137657,0.000216288,0.0001789392,0.00006346145],"domain_scores_gemma":[0.9992375,0.000236984,0.0002259246,0.00004874475,0.00004020796,0.0002105515],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.000743228,0.0001217242,0.0359094,0.0001670823,0.0003418475,0.7413766,0.0005949584,0.001073989,0.1996263,0.002387532,0.002147822,0.01550954],"study_design_scores_gemma":[0.0000829674,0.0002591096,0.09711111,0.00001832381,0.0001903458,0.8842016,0.0001444001,0.0005830406,0.01400538,0.0007251789,0.002631743,0.00004680881],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942704,0.0007497867,0.001596399,0.0003674368,0.00006918246,0.0000335712,0.0004492852,0.0001331181,0.00233079],"genre_scores_gemma":[0.997784,0.0002491068,0.0007902086,0.0000677637,0.00009756233,0.00001591049,0.0001824071,0.00003132954,0.0007818333],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001994118,"threshold_uncertainty_score":0.006671011,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00926281403142471,"score_gpt":0.2856400529890718,"score_spread":0.2763772389576471,"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."}}