{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003873052,0.0001240017,0.0005230858,0.00006222283,0.00001912624,0.00000169868,0.0001237337,0.00006579246,0.00003690852],"category_scores_gemma":[0.002888518,0.000104853,0.00005126139,0.0003102344,0.00008872753,0.00002017587,0.00004948663,0.0001310567,0.000003616153],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004111846,"about_ca_system_score_gemma":0.0001112435,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000288874,"about_ca_topic_score_gemma":0.000007741058,"domain_scores_codex":[0.9987069,0.00002776701,0.0005489981,0.0002630775,0.0002656457,0.0001876154],"domain_scores_gemma":[0.998921,0.0003933701,0.0001545161,0.0002522438,0.0001147427,0.0001641265],"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":[0.0007252148,0.0003234437,0.1214578,0.2159108,0.0002076377,0.0001184009,0.003815895,0.0008781294,0.0194573,0.0009122518,0.01346013,0.622733],"study_design_scores_gemma":[0.01869115,0.009381641,0.02112539,0.7861111,0.00192065,0.0001306724,0.0008848126,0.04397526,0.1079515,0.0009499851,0.007811247,0.001066583],"study_design_candidate":"systematic_review","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.06466972,0.746484,0.1439054,0.03282814,0.0002794892,0.009720751,0.00007486798,0.0001730287,0.001864637],"genre_scores_gemma":[0.9057717,0.06920215,0.01663376,0.006993803,0.0005697909,0.0006280885,0.0001615771,0.00003282058,0.000006278437],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.841102,"threshold_uncertainty_score":0.4275782,"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."}}