{"id":"W3201482803","doi":"10.1136/jmedgenet-2021-107897","title":"Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists","year":2021,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"Newborn Screening Ontario; Centre Hospitalier Universitaire Sainte-Justine; University of British Columbia; Université de Montréal; Hospital for Sick Children; SickKids Foundation; University of Toronto; University of Alberta; Alberta Children's Hospital; Izaak Walton Killam Health Centre; University of Ottawa; University of Calgary; Children's Hospital of Eastern Ontario","funders":"Canadian Institutes of Health Research; Genome Canada","keywords":"Context (archaeology); Geneticist; Pregnancy; Family medicine; Genetic testing; Medicine; Position statement; Prenatal diagnosis; Genetic counseling; Health care; Pediatrics; Obstetrics; Fetus; Genetics; Biology; Political science; Internal medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.001355076,0.0001138344,0.0005269924,0.00009724934,0.00005097882,0.000003896474,0.0003916049,0.0003350296,0.000122659],"category_scores_gemma":[0.003428352,0.0000835696,0.0002308391,0.0002673817,0.0003106214,0.00001915237,0.0001488223,0.0005051484,7.239296e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000205889,"about_ca_system_score_gemma":0.005094307,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001010002,"about_ca_topic_score_gemma":0.006703317,"domain_scores_codex":[0.9949235,0.0002060878,0.001727659,0.000144748,0.002774684,0.0002233305],"domain_scores_gemma":[0.9970841,0.0003711755,0.0007939846,0.0003129414,0.0006661384,0.0007716866],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004296484,0.001509916,0.9190527,0.002401764,0.001151081,0.003181683,0.001073324,0.001205181,0.01873482,0.0006531031,0.001322644,0.0492842],"study_design_scores_gemma":[0.005407724,0.001041665,0.9071689,0.006164556,0.0006821363,0.001900381,0.0004666286,0.005676417,0.06943591,0.000329429,0.001533728,0.0001925674],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9850297,0.004312633,0.003844663,0.006085376,0.0002795035,0.0002092638,0.00007692154,0.000002911843,0.0001590454],"genre_scores_gemma":[0.9930808,0.002773314,0.003618168,0.0002439098,0.0002332741,0.000001931818,0.00001195618,0.00001413819,0.00002253364],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05070109,"threshold_uncertainty_score":0.9037082,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02754301804582806,"score_gpt":0.3268554524321574,"score_spread":0.2993124343863294,"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."}}