{"id":"W4210749615","doi":"10.1002/pd.6108","title":"Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies","year":2022,"lang":"en","type":"article","venue":"Prenatal Diagnosis","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital; SickKids Foundation; Ontario Genomics; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Prenatal diagnosis; Exome sequencing; Copy-number variation; Medicine; Exome; Medical genetics; Whole genome sequencing; Fetus; Genetic testing; Genetics; Bioinformatics; Biology; Genome; Pregnancy; Phenotype; 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":[0.0001379053,0.0002335143,0.0003207458,0.000100835,0.0001867976,0.00001713917,0.0004545421,0.00008289608,0.0002175436],"category_scores_gemma":[0.0007253169,0.0002392819,0.0003345976,0.0001282388,0.0001365775,0.00001201359,0.0005902665,0.00009103026,8.846524e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004453824,"about_ca_system_score_gemma":0.0001368774,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001704829,"about_ca_topic_score_gemma":0.00004418856,"domain_scores_codex":[0.9984981,0.00005570768,0.000435743,0.000450916,0.0002309531,0.0003286118],"domain_scores_gemma":[0.9987249,0.0003910626,0.0002652353,0.0003947137,0.0001197493,0.0001043069],"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":[0.001026619,0.001034111,0.8191685,0.002707519,0.001503286,0.00009703769,0.00155877,0.0208324,0.1357961,0.001085323,0.003058947,0.01213142],"study_design_scores_gemma":[0.001530995,0.002236472,0.07087314,0.0001293281,0.0003285201,0.00007186733,0.001031307,0.0003322958,0.9183948,0.0005615295,0.003698799,0.0008109512],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9863833,0.006361351,0.00008074852,0.000066409,0.0002587853,0.000653138,0.006103525,0.00001230212,0.00008045649],"genre_scores_gemma":[0.9960315,0.0005402936,0.0004658102,0.00007460885,0.0001341081,0.001529298,0.00113936,0.00004107161,0.00004399497],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7825987,"threshold_uncertainty_score":0.9757632,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01382552054380723,"score_gpt":0.2332205578956106,"score_spread":0.2193950373518033,"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."}}