{"id":"W1982977023","doi":"10.1016/j.ajhg.2007.09.014","title":"22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome","year":2008,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":245,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"","keywords":"DiGeorge syndrome; Breakpoint; Biology; Comparative genomic hybridization; Genetics; Non-allelic homologous recombination; Truncus arteriosus; Chromosome; Fluorescence in situ hybridization; Bicuspid aortic valve; Microdeletion syndrome; Haploinsufficiency; Gene duplication; Phenotype; Medicine; Pathology; Gene; Internal medicine; Heart disease; Recombination; Aortic valve","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":[0.0002153788,0.000201817,0.0003697634,0.00006654416,0.0003204114,0.00003662517,0.0003808048,0.00004348655,0.00001948959],"category_scores_gemma":[0.00003878068,0.0001549308,0.0001785978,0.0001283375,0.0008857665,0.000005233649,0.0002822949,0.0002709327,0.00000866393],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003486481,"about_ca_system_score_gemma":0.0001195141,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000519061,"about_ca_topic_score_gemma":0.00004947793,"domain_scores_codex":[0.9985011,0.0002070105,0.000383729,0.0002451377,0.0003448353,0.0003181657],"domain_scores_gemma":[0.9990125,0.00004084711,0.00025621,0.0003723533,0.0001290502,0.0001890314],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002164365,0.0007902823,0.4196574,0.00007288687,0.002184416,0.002993338,0.002191876,0.0002409137,0.4209279,0.00003371371,0.001547007,0.147196],"study_design_scores_gemma":[0.0009096469,0.005560445,0.9737806,0.0000296426,0.0001114706,0.009870612,0.0002763965,0.00004742839,0.001216008,0.0001760217,0.007632711,0.0003889795],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946781,0.004503286,0.0003449171,0.0001016425,0.0001082081,0.0001463483,0.00005991398,0.000004959269,0.00005262361],"genre_scores_gemma":[0.9984015,0.0009674776,0.0001845511,0.00004236483,0.0002404248,0.000004808842,0.00002764621,0.00003555692,0.00009562162],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5541232,"threshold_uncertainty_score":0.6317895,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01318085005526435,"score_gpt":0.2658776609179045,"score_spread":0.2526968108626401,"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."}}