{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001374811,0.001433789,0.0007271005,0.0009477892,0.0004818137,0.0004917654,0.0006054104,0.001097969,0.003276156],"category_scores_gemma":[0.001082593,0.0003224402,0.000255664,0.0007456036,0.0006624227,0.0002290151,0.000763684,0.0006846996,0.0008641952],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002898816,"about_ca_system_score_gemma":0.0004865894,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001733056,"about_ca_topic_score_gemma":0.002613624,"domain_scores_codex":[0.9997385,0.00002967319,0.00002175961,0.0001015325,0.00006359549,0.00004483775],"domain_scores_gemma":[0.999653,0.00008040161,0.00009721305,0.00001924471,0.00002659351,0.0001235195],"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":[0.0006608837,0.0001227476,0.02121388,0.0001809185,0.0001325275,0.6855808,0.0006705565,0.001081339,0.2602026,0.00447188,0.002847956,0.02283393],"study_design_scores_gemma":[0.0002292771,0.0002967779,0.08710636,0.00004481039,0.0002628526,0.8806899,0.0002771738,0.001234557,0.01619816,0.00168852,0.01188789,0.00008374518],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9904558,0.001120368,0.002556951,0.0007603736,0.0001316035,0.00005081187,0.0006606366,0.0001564608,0.004107026],"genre_scores_gemma":[0.9944582,0.0004437791,0.001900373,0.000208,0.0002127725,0.00002855366,0.0005956579,0.00005263877,0.002099912],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003276156,"threshold_uncertainty_score":0.01095986,"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."}}