{"id":"W2119528684","doi":"10.1002/uog.15754","title":"Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome","year":2015,"lang":"en","type":"article","venue":"Ultrasound in Obstetrics and Gynecology","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":149,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre for Addiction and Mental Health","funders":"","keywords":"Medicine; False positive paradox; Genetic testing; Prenatal diagnosis; Single-nucleotide polymorphism; Predictive testing; SNP; Referral; Population; Obstetrics; Internal medicine; Pregnancy; Gynecology; Fetus; Genotype; Genetics; Gene; Family medicine","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":[0.005322432,0.0005549846,0.0003954883,0.0006057578,0.000387903,0.0007035543,0.0007634949,0.000633943,0.001736436],"category_scores_gemma":[0.03664884,0.0003839546,0.0002912409,0.0004126732,0.0008779575,0.0007180144,0.0009982821,0.0005957116,0.0005124041],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004257202,"about_ca_system_score_gemma":0.0005971945,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001511033,"about_ca_topic_score_gemma":0.001696092,"domain_scores_codex":[0.9928813,0.004021776,0.0005298116,0.0007594776,0.001429467,0.0003782263],"domain_scores_gemma":[0.9800016,0.01255087,0.002470291,0.001072584,0.00223215,0.001672458],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005783426,0.0003936448,0.8964431,0.0001399224,0.00005904998,0.01334377,0.006453306,0.0009005212,0.00599218,0.0001082992,0.001136779,0.0744511],"study_design_scores_gemma":[0.0001298891,0.006688733,0.803725,0.0002743712,0.000146593,0.1571039,0.005725638,0.005230249,0.01172393,0.0004522287,0.008665762,0.000133757],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943779,0.001262473,0.001696789,0.0003950751,0.00002905402,0.00004745225,0.00004079696,0.00003932519,0.002111148],"genre_scores_gemma":[0.9963049,0.0008145623,0.002174955,0.0002185367,0.00004173023,0.00002854689,0.00006708165,0.00002116619,0.0003286086],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005322432,"threshold_uncertainty_score":0.028148,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04414578504054377,"score_gpt":0.3147874845157694,"score_spread":0.2706416994752256,"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."}}