{"id":"W2053559579","doi":"10.1017/s1047951105000466","title":"Duplication of the 22q11.2 region associated with congenital cardiac disease","year":2005,"lang":"en","type":"article","venue":"Cardiology in the Young","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary","funders":"","keywords":"DiGeorge syndrome; Gene duplication; Medicine; Disease; Chromosome; Genetics; Clinical significance; Deletion syndrome; Gene; Internal medicine; Biology; Phenotype","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":[0.0001698501,0.0007423006,0.0006138012,0.001459882,0.000600375,0.0004119794,0.000445315,0.001350995,0.002322031],"category_scores_gemma":[0.001986183,0.0003920997,0.000219722,0.0008114772,0.0008636815,0.0003059758,0.0008847459,0.0006486758,0.0005602255],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002639606,"about_ca_system_score_gemma":0.0002935046,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007220123,"about_ca_topic_score_gemma":0.0007246223,"domain_scores_codex":[0.9995875,0.00005449188,0.00004035464,0.000123017,0.00007767121,0.0001169798],"domain_scores_gemma":[0.9990875,0.0002631747,0.0002825454,0.00006012854,0.00005945715,0.0002473385],"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":[0.0001207095,0.00006182874,0.05924779,0.00006612571,0.00002004256,0.9059414,0.0007962698,0.0002237542,0.02633837,0.0006115806,0.0006374762,0.005934739],"study_design_scores_gemma":[0.00002277047,0.000153265,0.07179015,0.00001157953,0.00002716641,0.9224568,0.0001377784,0.0001570021,0.003469319,0.0002153468,0.001536772,0.0000221086],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9919762,0.001436341,0.001534327,0.0003623532,0.0000996647,0.00003936246,0.0001355346,0.00005243613,0.004363713],"genre_scores_gemma":[0.9977436,0.0004015043,0.0004535634,0.0001381282,0.0001424779,0.00001546953,0.00006539076,0.000009008055,0.001030831],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002322031,"threshold_uncertainty_score":0.007767916,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01196328641695373,"score_gpt":0.2533873703748855,"score_spread":0.2414240839579318,"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."}}