{"id":"W2529321737","doi":"10.1002/pd.4935","title":"Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting","year":2016,"lang":"en","type":"article","venue":"Prenatal Diagnosis","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto; Centre for Addiction and Mental Health; University Health Network","funders":"National Institute of Mental Health; Canadian HIV Trials Network, Canadian Institutes of Health Research; Foundation for the National Institutes of Health","keywords":"Prenatal diagnosis; Deletion syndrome; Medicine; Copy-number variation; Schizophrenia (object-oriented programming); DiGeorge syndrome; Intellectual disability; Microdeletion syndrome; Genetic counseling; Epilepsy; Disease; Fetus; Genetic testing; Psychiatry; Bioinformatics; Phenotype; Pregnancy; Genetics; Pathology; Biology; Genome; Internal medicine; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002531245,0.0001116421,0.0001056917,0.0001023045,0.00006735114,0.00002470295,0.0001833938,0.00007636688,0.00007099142],"category_scores_gemma":[0.0007466526,0.00007314386,0.00007862851,0.000199281,0.00008963871,0.00001231548,0.0001416733,0.00009510465,0.00002501438],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000171491,"about_ca_system_score_gemma":0.00008947055,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004192091,"about_ca_topic_score_gemma":0.0002971744,"domain_scores_codex":[0.9988239,0.0002053575,0.0002213073,0.0002867574,0.0002219259,0.0002407832],"domain_scores_gemma":[0.9991432,0.0003315294,0.00005311619,0.0003528194,0.00007309332,0.00004627187],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001842119,0.001384952,0.4949261,0.0008284564,0.0002501898,0.0005516198,0.0005550756,0.0001124909,0.3468217,0.006138106,0.00842918,0.1398179],"study_design_scores_gemma":[0.001882614,0.001490444,0.3980173,0.0003128825,0.00004479238,0.000728904,0.00007588512,0.00007628802,0.5922369,0.002152605,0.002520757,0.0004606756],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995945,0.001237774,0.00007849379,0.001152874,0.00007699149,0.0004058785,0.00009453322,0.000009674569,0.000998809],"genre_scores_gemma":[0.9992871,0.0002033222,0.0000934791,0.0000800023,0.00007292913,0.0001842186,0.00002802681,0.00001522374,0.00003573163],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2454152,"threshold_uncertainty_score":0.298272,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01185678321878061,"score_gpt":0.2677311534999576,"score_spread":0.255874370281177,"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."}}