{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003550363,0.00007403557,0.000160395,0.00006184042,0.00006110065,0.00001416699,0.0002357172,0.00002441824,0.000007737602],"category_scores_gemma":[0.0000311676,0.00005683825,0.00004888401,0.0001344553,0.0002683928,0.000003474535,0.00007942291,0.00009410485,0.000002370499],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001384569,"about_ca_system_score_gemma":0.0000638331,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008791539,"about_ca_topic_score_gemma":0.00000520941,"domain_scores_codex":[0.9992505,0.00008640514,0.0002797722,0.0001074587,0.0001504142,0.0001254098],"domain_scores_gemma":[0.9990841,0.00002455102,0.0003142135,0.0003024905,0.0002134234,0.00006125124],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00006328734,0.00004444292,0.001016053,0.000008008761,0.00004658487,6.171575e-7,0.00006568669,0.00005700879,0.9704368,0.00004649074,0.0002164215,0.02799866],"study_design_scores_gemma":[0.001355019,0.008354628,0.1326873,0.00004996006,0.0001731631,0.001821769,0.0003266094,0.0002866091,0.8204561,0.0007464424,0.03338817,0.0003541856],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968984,0.001985466,0.0005349302,0.0003393873,0.00001249908,0.0001000325,0.000004242223,0.000001577087,0.0001234729],"genre_scores_gemma":[0.9967343,0.0004510534,0.002398147,0.00007886176,0.0001329961,0.000002526837,0.000003572868,0.00001294241,0.0001855706],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1499806,"threshold_uncertainty_score":0.2317797,"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."}}