{"id":"W4401998629","doi":"10.1093/med/9780197677179.003.0006","title":"Carrier Screening and Newborn Screening","year":2024,"lang":"en","type":"book-chapter","venue":"","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Newborn screening; Obstetrics; Medicine; Pediatrics","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005111173,0.0005371614,0.0003639492,0.0008842516,0.0007042184,0.001788521,0.0006093136,0.001384934,0.03318073],"category_scores_gemma":[0.001337525,0.0002578303,0.0003686255,0.0004007028,0.001007951,0.001883355,0.001323021,0.002140689,0.01421569],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00115502,"about_ca_system_score_gemma":0.001095964,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003075727,"about_ca_topic_score_gemma":0.004704526,"domain_scores_codex":[0.9996117,0.0001020053,0.00001684301,0.00004796389,0.0001835424,0.00003807342],"domain_scores_gemma":[0.9996959,0.0001710057,0.00001262463,0.00001487894,0.00007052544,0.0000350351],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00004468841,0.00005860304,0.0004495426,0.0004513384,0.000006214565,0.00148351,0.001391792,0.0003136853,0.001916449,0.1566927,0.3728094,0.4643821],"study_design_scores_gemma":[0.000001925009,0.00001812053,0.0002480264,0.0004642413,0.000003131991,0.00219484,0.0001883105,0.0001006114,0.0004179246,0.01317972,0.9831754,0.000007739993],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"other","genre_gemma":"review","genre_scores_codex":[0.00347453,0.1378686,0.01585584,0.02391178,0.008699576,0.0001855687,0.0004101337,0.0005803721,0.8090136],"genre_scores_gemma":[0.0216291,0.09091803,0.02071227,0.01526189,0.001695616,0.0001516014,0.0004141169,0.0003132767,0.8489041],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.03318073,"threshold_uncertainty_score":0.1110007,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01407158337567306,"score_gpt":0.2246291507026236,"score_spread":0.2105575673269506,"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."}}