{"id":"W4408322844","doi":"10.1002/pd.6766","title":"Navigating the Challenges of Exome Sequencing in Structurally Normal Fetuses","year":2025,"lang":"en","type":"editorial","venue":"Prenatal Diagnosis","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Exome sequencing; Exome; Computational biology; Fetus; Medicine; Genetics; Biology; Bioinformatics; Mutation; Pregnancy; 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":[0.0001679455,0.0002601904,0.0002913703,0.00003470004,0.00006425034,0.00003111615,0.0005547862,0.0004415607,0.000009841456],"category_scores_gemma":[0.0008933653,0.0002009927,0.0001738453,0.00007827389,0.00008874141,0.000004914331,0.0004427029,0.0004552132,0.000001024014],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005400413,"about_ca_system_score_gemma":0.0004759584,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004792744,"about_ca_topic_score_gemma":0.0006153092,"domain_scores_codex":[0.9986307,0.00008207522,0.0003539248,0.0004269392,0.0002447903,0.0002615963],"domain_scores_gemma":[0.9989,0.0002884629,0.0002054719,0.0004186063,0.0001428095,0.00004466186],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0006442112,0.0004229149,0.01014021,0.009453457,0.001851835,0.0002805888,0.003348308,0.003108933,0.01340161,0.0009086519,0.8176441,0.1387952],"study_design_scores_gemma":[0.004886185,0.001331328,0.01392146,0.01378528,0.0008680028,0.00003175487,0.004668572,0.0002110811,0.3244482,0.002237,0.6294466,0.004164625],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6843703,0.06254885,0.000004071527,0.0003058366,0.249191,0.0005737133,0.002347308,0.00001802485,0.0006408362],"genre_scores_gemma":[0.8730999,0.01797229,0.00007878544,0.0000378892,0.1075737,0.0002093267,0.0009524574,0.00003537423,0.00004034137],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3110466,"threshold_uncertainty_score":0.8196245,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008948804057349968,"score_gpt":0.2648446430421464,"score_spread":0.2558958389847965,"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."}}