{"id":"W4389391383","doi":"10.1002/pd.6466","title":"Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis","year":2023,"lang":"en","type":"review","venue":"Prenatal Diagnosis","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital; SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; National Institute for Health and Care Research; Great Ormond Street Institute of Child Health; National Institute of Child Health and Human Development; University of North Carolina at Chapel Hill; National Institutes of Health","keywords":"Exome sequencing; Medicine; Lissencephaly; Meta-analysis; Exome; Bioinformatics; Pathology; Biology; Genetics; Phenotype","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":[0.007308134,0.001588516,0.01037915,0.005697446,0.0004821082,0.002092078,0.001538638,0.001735402,0.00352845],"category_scores_gemma":[0.02192055,0.001094114,0.0185431,0.009534695,0.0004733638,0.00117418,0.001042612,0.001115162,0.0002382106],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001357778,"about_ca_system_score_gemma":0.001939166,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005138577,"about_ca_topic_score_gemma":0.01011426,"domain_scores_codex":[0.9938176,0.002666203,0.001721335,0.0009938607,0.0005701571,0.0002308144],"domain_scores_gemma":[0.9792075,0.01553604,0.003382295,0.0005377367,0.001088966,0.0002474475],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"meta_analysis","study_design_gemma":"meta_analysis","study_design_scores_codex":[0.002270755,0.00003446101,0.03145418,0.3098424,0.6425567,0.000316567,0.0001004046,0.0004956783,0.0002802905,0.0001556944,0.0009039745,0.01158886],"study_design_scores_gemma":[0.0005852982,0.0002353065,0.02290358,0.0202074,0.9537913,0.0002902748,0.00006641197,0.000222923,0.00009923923,0.0001760444,0.001396334,0.00002582143],"study_design_candidate":"meta_analysis","study_design_consensus":"meta_analysis","genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.01552766,0.9823049,0.0003826949,0.0001871743,0.00008373572,0.0001593195,0.001103684,0.00001470661,0.0002360155],"genre_scores_gemma":[0.415,0.5789688,0.002145269,0.0008586619,0.0002737959,0.0009778052,0.001459145,0.00002580473,0.0002907962],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.01037915,"threshold_uncertainty_score":0.03864962,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07004764532560356,"score_gpt":0.3526394862542552,"score_spread":0.2825918409286516,"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."}}