{"id":"W2137127609","doi":"10.1002/pd.4718","title":"Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?","year":2015,"lang":"en","type":"article","venue":"Prenatal Diagnosis","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"National Institute for Health and Care Research","keywords":"Exome sequencing; Medicine; Exome; Prenatal diagnosis; Pregnancy; Fetus; Genetic testing; Obstetrics; Genetic counseling; Pediatrics; Genetics; Mutation; Biology; Internal medicine","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001217762,0.0005030577,0.00100211,0.0005409616,0.00006585791,0.00007914719,0.0006397897,0.000252869,0.0001935056],"category_scores_gemma":[0.006261069,0.0003431446,0.0002692823,0.001049985,0.0002928026,0.0004103104,0.0003967838,0.0008933123,0.00001998389],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003977028,"about_ca_system_score_gemma":0.0005396599,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001516395,"about_ca_topic_score_gemma":0.002173357,"domain_scores_codex":[0.9957769,0.000321311,0.0009791164,0.0006545961,0.001447327,0.0008207664],"domain_scores_gemma":[0.993517,0.004873083,0.0003040998,0.0007429676,0.0001734786,0.0003894128],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006930407,0.002562504,0.9783163,0.0005152142,0.0001039573,0.0005842988,0.001983852,0.0001579144,0.000009817139,0.0005351817,0.00528232,0.00925557],"study_design_scores_gemma":[0.01704455,0.002478078,0.9584146,0.003906323,0.0004284391,0.0001492944,0.002538077,0.003360905,0.003475069,0.0003331708,0.00710772,0.0007637591],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9871175,0.002922566,0.00009543505,0.005679539,0.0004758747,0.00208162,0.000641669,0.00006836501,0.0009173991],"genre_scores_gemma":[0.9946487,0.001302317,0.0006793204,0.0006604592,0.0001426273,0.002214628,0.0002691418,0.00004768589,0.00003512378],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01990171,"threshold_uncertainty_score":0.9999021,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1179105055629519,"score_gpt":0.3669032780076434,"score_spread":0.2489927724446916,"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."}}