{"id":"W4410769868","doi":"10.21203/rs.3.rs-6616246/v1","title":"Genomic newborn screening: feasibility, acceptability and clinical outcomes","year":2025,"lang":"en","type":"preprint","venue":"Research Square","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; St. Michael's Hospital","funders":"","keywords":"Medicine; Regret; Personalized medicine; Genomic sequencing; Pediatrics; Internal medicine; Bioinformatics; Genome; Genetics; Gene; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01853832,0.0003698824,0.0005561981,0.0009551379,0.0004184872,0.001561974,0.0006684143,0.00172147,0.005685284],"category_scores_gemma":[0.06477629,0.0002391605,0.0006093761,0.0008029447,0.0008628552,0.00127907,0.001426095,0.0007343601,0.001447348],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000742981,"about_ca_system_score_gemma":0.001047607,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00244417,"about_ca_topic_score_gemma":0.000988313,"domain_scores_codex":[0.9847585,0.01069158,0.0004873952,0.0009107165,0.002615627,0.0005362181],"domain_scores_gemma":[0.9635809,0.02743664,0.002060657,0.001955535,0.003209469,0.001756736],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01249752,0.001590734,0.7886448,0.0002126327,0.0001507046,0.002311669,0.002528243,0.000659156,0.002378889,0.001322099,0.003255003,0.1844486],"study_design_scores_gemma":[0.0005992153,0.01258943,0.9516457,0.0002977353,0.0002927017,0.008399512,0.004428098,0.004530769,0.005247283,0.004989055,0.006839023,0.0001415774],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9810708,0.001773641,0.003593146,0.002000341,0.00009518515,0.0001954276,0.00105057,0.00007594752,0.01014496],"genre_scores_gemma":[0.9953983,0.0007990949,0.001775555,0.0002244688,0.00006238715,0.000114079,0.0005038259,0.00003679775,0.00108547],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01853832,"threshold_uncertainty_score":0.09804124,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1053710652389982,"score_gpt":0.4670609445242301,"score_spread":0.3616898792852319,"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."}}