{"id":"W3047156590","doi":"10.1038/s41436-020-0918-y","title":"Application of exome sequencing for prenatal diagnosis: a rapid scoping review","year":2020,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":41,"is_retracted":false,"has_abstract":false,"ca_institutions":"Congress of Aboriginal Peoples; Ontario Stroke Network; Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"","keywords":"Medicine; Exome sequencing; Prenatal diagnosis; MEDLINE; Exome; Genetic testing; Intensive care medicine; Bioinformatics; Pregnancy; Genetics; Phenotype; Fetus; Biology","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":[0.02238616,0.00139789,0.004044866,0.01153531,0.0006460629,0.003770196,0.001972943,0.002815211,0.002414485],"category_scores_gemma":[0.06877379,0.0007815612,0.003942152,0.007751014,0.000890167,0.00433467,0.002832978,0.002430265,0.0006250023],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00186382,"about_ca_system_score_gemma":0.007533988,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003170473,"about_ca_topic_score_gemma":0.007664398,"domain_scores_codex":[0.9920466,0.002350188,0.002844239,0.0008333065,0.001724619,0.0002011322],"domain_scores_gemma":[0.9320362,0.0578523,0.00295522,0.001219852,0.005565739,0.0003707042],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"systematic_review","study_design_scores_codex":[0.0002504103,0.00004854601,0.002089276,0.2355223,0.004485792,0.0006291032,0.0005189332,0.0006266822,0.002217638,0.003050008,0.01524168,0.7353196],"study_design_scores_gemma":[0.00009932646,0.0002566237,0.007919902,0.667915,0.02208818,0.001871871,0.0007204506,0.0007252935,0.001476104,0.006153329,0.2906615,0.0001124026],"study_design_candidate":"systematic_review","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0007606157,0.9919208,0.002321316,0.002638107,0.0006431585,0.0002356671,0.0003988885,0.0000301594,0.001051312],"genre_scores_gemma":[0.004692184,0.9885804,0.003887021,0.001549182,0.0003148414,0.0002407205,0.0004728369,0.00001926973,0.0002434748],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.02238616,"threshold_uncertainty_score":0.1183907,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08007334790638618,"score_gpt":0.3586723285394037,"score_spread":0.2785989806330176,"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."}}