{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002363026,0.000161783,0.0001694468,0.0001557707,0.0001185896,0.00002007671,0.0002999325,0.00006925513,0.00001538084],"category_scores_gemma":[0.0001047788,0.0001868059,0.00006880747,0.0003019396,0.0000482849,0.000002318842,0.0003404057,0.0001579902,0.000001007894],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006267734,"about_ca_system_score_gemma":0.0001797452,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002192206,"about_ca_topic_score_gemma":0.00002175688,"domain_scores_codex":[0.9986394,0.00007307714,0.0003203987,0.0004159362,0.0001841017,0.00036711],"domain_scores_gemma":[0.9994539,0.000007842698,0.0001051245,0.0002980919,0.00004564996,0.00008937917],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001156274,0.0001764966,0.9259456,0.00002351451,0.0000345231,0.0001122905,0.0001411692,0.04031825,0.009753012,0.000005284294,0.00419923,0.01917498],"study_design_scores_gemma":[0.002356479,0.0007520152,0.5652154,0.00002382478,0.00003780876,0.00004833854,0.002203957,0.009457915,0.002255124,0.001488496,0.4152544,0.0009062726],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9792879,0.005221392,0.01401854,0.0001022937,0.0003834835,0.0003857132,0.00008568161,0.00001144911,0.000503595],"genre_scores_gemma":[0.9288874,0.0002340103,0.06965254,0.0003248266,0.00009531849,0.0001142555,0.0002966996,0.00004089883,0.0003540207],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4110551,"threshold_uncertainty_score":0.7617724,"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."}}