{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001093106,0.0001005845,0.0001140748,0.00005894464,0.00003183796,0.00001105572,0.0001637016,0.00008542326,0.000009378773],"category_scores_gemma":[0.00002740468,0.0001073189,0.00006479778,0.0001941419,0.00003862678,0.000001174787,0.0001386765,0.00006532179,0.00001725067],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001417194,"about_ca_system_score_gemma":0.0001228917,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002628416,"about_ca_topic_score_gemma":0.00004812114,"domain_scores_codex":[0.9992403,0.00002282241,0.0001969563,0.0002208362,0.00008924942,0.0002297944],"domain_scores_gemma":[0.9995621,0.000006620302,0.00005452653,0.0002681658,0.00004549198,0.00006305095],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00001423508,0.00001135348,0.006637631,0.00001987475,0.0000183372,0.00001774106,0.0000950579,0.0148033,0.9712828,0.000009273182,0.0002046759,0.006885657],"study_design_scores_gemma":[0.002046692,0.0005833263,0.4196223,0.0001091976,0.00006401859,0.0000331872,0.001683738,0.006839937,0.3292713,0.0005836747,0.238165,0.0009975726],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970465,0.001430032,0.0007859754,0.00006015563,0.00006593086,0.00009479418,0.00007470593,0.00001011644,0.000431792],"genre_scores_gemma":[0.9944946,0.0006102283,0.004048132,0.0000945392,0.0001139489,0.000006921694,0.0002835645,0.00002479173,0.0003232911],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6420115,"threshold_uncertainty_score":0.4376337,"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."}}