{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002523052,0.0006393441,0.0004138648,0.001683093,0.006220523,0.002166873,0.001521231,0.001299913,0.00237314],"category_scores_gemma":[0.006807306,0.000397827,0.0003574936,0.003981355,0.00225287,0.0008320866,0.002076615,0.002270559,0.0004257222],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.03010894,"about_ca_system_score_gemma":0.06046021,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.881048,"about_ca_topic_score_gemma":0.9363284,"domain_scores_codex":[0.9967024,0.0005446794,0.0001823361,0.0004290339,0.001573836,0.0005677037],"domain_scores_gemma":[0.9938667,0.0007533461,0.000310447,0.0001805632,0.002177679,0.002711251],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.000398122,0.0006631707,0.2409938,0.00131799,0.0001728558,0.1075763,0.04420172,0.001314712,0.009343532,0.01219414,0.06973413,0.5120896],"study_design_scores_gemma":[0.00008013372,0.0007937124,0.2466642,0.00233206,0.0003016858,0.1942322,0.04194174,0.001947656,0.004396549,0.00296328,0.5037884,0.0005584174],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6436448,0.0921481,0.01625543,0.09763141,0.002364635,0.0009495788,0.001958546,0.000576411,0.1444711],"genre_scores_gemma":[0.8405258,0.1033111,0.02205313,0.01656454,0.0006178795,0.00009190004,0.0009375673,0.0003597576,0.01553832],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.118952,"threshold_uncertainty_score":0.239305,"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."}}