{"id":"W2253685848","doi":"10.1038/nrdp.2015.71","title":"22q11.2 deletion syndrome","year":2015,"lang":"en","type":"review","venue":"Nature Reviews Disease Primers","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2238,"is_retracted":false,"has_abstract":false,"ca_institutions":"Toronto General Hospital; University of Toronto; Centre for Addiction and Mental Health; University Health Network","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Mental Health; Immune Deficiency Foundation; Canadian Institutes of Health Research; National Institutes of Health; National Alliance for Research on Schizophrenia and Depression; Baxalta","keywords":"DiGeorge syndrome; Medicine; Disease; Population; Presentation (obstetrics); Pediatrics; Deletion syndrome; Hypoparathyroidism; Psychiatry; Psychology; Genetics; Phenotype; Pathology; Surgery; Biology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0006676195,0.001090644,0.001717514,0.002139292,0.000248491,0.0008874392,0.00142356,0.001204259,0.005005019],"category_scores_gemma":[0.0008634565,0.0003086286,0.0003973972,0.00183028,0.000627767,0.001017062,0.0008971817,0.001915286,0.00314421],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007018305,"about_ca_system_score_gemma":0.001053207,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008209007,"about_ca_topic_score_gemma":0.001866811,"domain_scores_codex":[0.9997901,0.00002492874,0.00003181624,0.00004149932,0.00008406768,0.00002759952],"domain_scores_gemma":[0.9996426,0.0001749315,0.0000523107,0.00001201576,0.00006904288,0.0000491325],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00006746826,0.00002410687,0.0002138831,0.006839623,0.00009238515,0.001118273,0.00002829226,0.0003416975,0.001524452,0.003809237,0.07488894,0.9110515],"study_design_scores_gemma":[0.00001620155,0.00002246333,0.0006739472,0.002044033,0.000106802,0.00517786,0.00002227142,0.00003809843,0.0004244122,0.001591342,0.9898678,0.00001477933],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001153603,0.9967331,0.0002483096,0.0006565131,0.0005622378,0.000003405283,0.00003637914,0.00002015653,0.001624555],"genre_scores_gemma":[0.0007930204,0.9970976,0.0002043248,0.000453442,0.0003746531,0.000005497011,0.00008117825,0.000003543824,0.000986702],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.005005019,"threshold_uncertainty_score":0.01674348,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0509703488139826,"score_gpt":0.4123736309226017,"score_spread":0.3614032821086191,"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."}}