{"id":"W4313816284","doi":"10.3390/genes14010160","title":"Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions","year":2023,"lang":"en","type":"review","venue":"Genes","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":33,"is_retracted":false,"has_abstract":true,"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","keywords":"Prenatal diagnosis; Medicine; Chorionic villus sampling; Genetic counseling; Genetic testing; Microdeletion syndrome; Obstetrics; Amniocentesis; Pregnancy; Pediatrics; Polyhydramnios; Fetus; Chromosome; Genetics; Internal medicine; Biology; Gene","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":[0.0001423451,0.0001940461,0.0003796604,0.00009769754,0.0001976679,0.00006941365,0.00008949303,0.0002210801,0.00001114235],"category_scores_gemma":[0.0009887972,0.0001898803,0.0002175422,0.00008815799,0.00007407244,0.00000192978,0.0002303413,0.0000984303,0.00003383702],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007654562,"about_ca_system_score_gemma":0.0002075685,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009914047,"about_ca_topic_score_gemma":0.0001375452,"domain_scores_codex":[0.9989276,0.00007261868,0.0002307159,0.0004206254,0.0000781218,0.000270309],"domain_scores_gemma":[0.9987101,0.0007770351,0.00004823211,0.0002841307,0.00009104677,0.00008944045],"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":[0.000002709784,0.00001495547,0.000007382202,0.008832156,0.0002519609,0.00001018822,0.00000689947,0.000003019179,0.000210716,0.00005772503,0.003960827,0.9866415],"study_design_scores_gemma":[0.0001285835,0.00007950367,0.000006950336,0.001198467,0.0002071065,0.0001169689,0.000006202615,0.0000113122,0.0002500055,0.0001010628,0.9976553,0.0002384976],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001961125,0.997137,0.0005969858,0.00003562499,0.00009606199,0.001120825,0.0007653015,0.00002364405,0.00002847816],"genre_scores_gemma":[0.00006092599,0.9950713,0.00145606,0.00001916982,0.0003706036,0.0007188671,0.0008958933,0.0000660784,0.001341094],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9936945,"threshold_uncertainty_score":0.7743095,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1110862255662808,"score_gpt":0.3895219435943839,"score_spread":0.278435718028103,"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."}}