{"id":"W4283802135","doi":"10.3389/fgene.2022.865400","title":"Exome/Genome-Wide Testing in Newborn Screening: A Proportionate Path Forward","year":2022,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; University of British Columbia","funders":"National Human Genome Research Institute; Canadian Institutes of Health Research; National Institutes of Health","keywords":"Exome sequencing; Newborn screening; Genetic testing; Exome; Context (archaeology); Population; Medicine; Data science; Genetics; Biology; Computer science; Pediatrics; Environmental health","routes":{"ca_aff":true,"ca_fund":true,"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":[0.1120149,0.001158284,0.002473008,0.003415263,0.0005188072,0.004097004,0.002944822,0.003323775,0.01148123],"category_scores_gemma":[0.1304944,0.0007409514,0.001177185,0.003225443,0.003520767,0.007485954,0.006344802,0.004346903,0.003047544],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00209596,"about_ca_system_score_gemma":0.003614005,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002595331,"about_ca_topic_score_gemma":0.002017407,"domain_scores_codex":[0.9567798,0.03305859,0.001427804,0.002823445,0.005410844,0.0004995322],"domain_scores_gemma":[0.8803187,0.08940305,0.005133741,0.0105942,0.01187582,0.002674496],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0008148958,0.0001919306,0.01406715,0.003318922,0.0009160198,0.0001919434,0.0004695649,0.002699734,0.001801889,0.06061708,0.03133162,0.8835794],"study_design_scores_gemma":[0.0005696922,0.001551654,0.04862176,0.008526327,0.001231498,0.003655866,0.001025839,0.009780415,0.006168884,0.3179904,0.600581,0.0002966071],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.02054686,0.1918502,0.4107006,0.3144345,0.008925193,0.001418785,0.003579586,0.001515067,0.04702917],"genre_scores_gemma":[0.2788617,0.2233905,0.3740639,0.07978259,0.01884261,0.003073446,0.002602851,0.0009867636,0.01839563],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.1120149,"threshold_uncertainty_score":0.5923986,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01112318805405303,"score_gpt":0.2152317764764838,"score_spread":0.2041085884224308,"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."}}