{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003849121,0.00009059165,0.0001380867,0.00002454298,0.00006639418,0.000007123604,0.0002826041,0.0001007703,0.000001263475],"category_scores_gemma":[0.000281492,0.00005330527,0.0001226276,0.0001530584,0.0002563349,0.000003433669,0.00009212053,0.0001410937,0.000004170563],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003011409,"about_ca_system_score_gemma":0.00009242779,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001259556,"about_ca_topic_score_gemma":0.00008288449,"domain_scores_codex":[0.9988651,0.0004722252,0.0001238327,0.0002003712,0.0001387883,0.0001996323],"domain_scores_gemma":[0.9992164,0.00005983098,0.00004827548,0.000545605,0.0000955697,0.00003429989],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003582491,0.00007056431,0.9255764,0.00001269119,0.0004107155,0.00007585282,0.0002920706,0.0005188842,0.06811163,0.0003376476,0.002534283,0.001700956],"study_design_scores_gemma":[0.0004281412,0.0001239245,0.9925589,0.00001040718,0.00007329557,0.0001426515,0.0001165955,0.00006928154,0.004226718,0.00005212285,0.002073694,0.0001242508],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9955315,0.001614624,0.00003887957,0.0005361061,0.00006967399,0.0003683492,0.00002186153,0.000005106274,0.001813882],"genre_scores_gemma":[0.9991814,0.00007405524,0.000004602879,0.0000697852,0.0001655182,0.00006722676,0.0000468821,0.00001100118,0.0003794766],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06698246,"threshold_uncertainty_score":0.2173726,"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."}}