{"id":"W4308198576","doi":"10.3390/genes13112019","title":"Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience","year":2022,"lang":"en","type":"article","venue":"Genes","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; Royal Alexandra Hospital; Women and Children’s Health Research Institute; University of Alberta","funders":"","keywords":"Context (archaeology); Medical genetics; Genetic testing; Medical diagnosis; Exome sequencing; Medicine; Prenatal diagnosis; Clinical Practice; Genetic counseling; Family medicine; Pediatrics; Genetics; Pregnancy; Biology; Mutation; Internal medicine; Pathology; Gene; Fetus","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001277731,0.00005923375,0.00008562799,0.00005671477,0.0001167493,0.00001390121,0.0001200174,0.00001950127,0.00006417229],"category_scores_gemma":[0.0002412472,0.00004956696,0.00002026452,0.0002278742,0.00002689693,0.00003479588,0.00004601406,0.0001384703,0.000002040838],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001133895,"about_ca_system_score_gemma":0.0002888036,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.06973004,"about_ca_topic_score_gemma":0.02198224,"domain_scores_codex":[0.9992833,0.00005679751,0.0001491668,0.0001301632,0.0002069609,0.0001736422],"domain_scores_gemma":[0.999609,0.00007713203,0.0000372057,0.0001774969,0.00003273132,0.00006646026],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00004942772,0.0001926814,0.8330941,0.000093874,0.00002491839,0.0004552606,0.01593355,0.005889415,0.06408111,0.000140002,0.0008660887,0.07917959],"study_design_scores_gemma":[0.002869967,0.001318537,0.8362502,0.0004246761,0.0000998094,0.001343355,0.0119812,0.08801233,0.05196241,0.0001140882,0.005057908,0.0005654799],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977905,0.0008315717,0.00004785706,0.0003648676,0.00007968574,0.0002074293,0.00002784464,0.000009776904,0.00064053],"genre_scores_gemma":[0.9963041,0.00001181736,0.002632294,0.0007894276,0.000110339,0.00008363868,0.0000425843,0.00000674227,0.0000190523],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08212291,"threshold_uncertainty_score":0.995864,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1175715651749567,"score_gpt":0.2780980734540938,"score_spread":0.1605265082791371,"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."}}