{"id":"W4387374349","doi":"10.21926/obm.genet.2304195","title":"Whole Genome Sequencing in Era of Newborn Screening","year":2023,"lang":"en","type":"article","venue":"OBM Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Exome sequencing; Whole genome sequencing; Newborn screening; Personal genomics; Exome; Genetic testing; DNA sequencing; Genomics; Genome; Genomic sequencing; Medical genetics; Diagnostic test; Medicine; Reimbursement; Computational biology; Biology; Genetics; Health care; Pediatrics; Mutation; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.005467978,0.0003069186,0.000412982,0.001290393,0.0003981114,0.001650331,0.0004911099,0.00174036,0.002201836],"category_scores_gemma":[0.01164847,0.0001980334,0.0003271867,0.0009877698,0.001192561,0.002158699,0.001337723,0.002758708,0.0007840183],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001474203,"about_ca_system_score_gemma":0.002141941,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002551746,"about_ca_topic_score_gemma":0.00322676,"domain_scores_codex":[0.9981472,0.0007786684,0.0001465812,0.0003570107,0.0004550109,0.0001154909],"domain_scores_gemma":[0.9944097,0.002910993,0.0004804147,0.0003027566,0.001250453,0.0006455082],"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":[0.0002727454,0.00005703951,0.01544002,0.001714711,0.0001193627,0.002999413,0.001096489,0.0008990112,0.01125072,0.05517225,0.1291289,0.7818493],"study_design_scores_gemma":[0.0000210582,0.0002303817,0.01714419,0.003115593,0.00009423691,0.01055246,0.0007888201,0.0009709868,0.007679537,0.04188427,0.9174412,0.00007716704],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.04120681,0.5525996,0.06740344,0.2746327,0.01199409,0.0001110137,0.002787302,0.001287389,0.04797764],"genre_scores_gemma":[0.1965457,0.6106021,0.07974096,0.08611485,0.0105796,0.0001662824,0.002311093,0.0004978361,0.01344159],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.005467978,"threshold_uncertainty_score":0.02891779,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01754012459868717,"score_gpt":0.2487739807119435,"score_spread":0.2312338561132563,"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."}}