{"id":"W4392108100","doi":"10.15173/m.v1i31.1846","title":"Newborn Screening and Whole Genome Sequencing","year":2018,"lang":"en","type":"article","venue":"The Meducator","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Genome; Computational biology; Biology; Whole genome sequencing; Genetics; Evolutionary biology; Medicine; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001032944,0.00007239088,0.00005260439,0.00001324532,0.0001563391,0.0000263734,0.0001296773,0.00003283664,0.00002445592],"category_scores_gemma":[0.00003114573,0.00005022437,0.00002933011,0.00003304048,0.0001328873,0.000001353382,0.00009396618,0.00003234775,0.00002396014],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006041823,"about_ca_system_score_gemma":0.00008735924,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002531505,"about_ca_topic_score_gemma":0.00001387894,"domain_scores_codex":[0.9995647,0.00002122486,0.00006652367,0.0001579175,0.00004274611,0.0001468861],"domain_scores_gemma":[0.9996263,0.000005494917,0.00002673331,0.0002302602,0.00003373769,0.00007747553],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00002576682,0.00001239113,0.0007643115,0.000006355458,0.00004051569,0.000001732227,0.0005153851,0.000005315838,0.9903757,0.0000613173,0.001853593,0.006337618],"study_design_scores_gemma":[0.0002781508,0.0001919822,0.01819155,0.00001077915,0.00004089923,0.00005594398,0.001887953,0.00005551279,0.04411681,0.0002714806,0.9346657,0.0002332373],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960019,0.001443817,0.0003876656,0.0005758894,0.0001260761,0.00007235025,0.00002185671,0.000006087609,0.001364384],"genre_scores_gemma":[0.9956843,0.00003414056,0.0018546,0.0007450354,0.000855998,0.000006588393,0.00003577763,0.00001350428,0.0007700551],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9462589,"threshold_uncertainty_score":0.2048091,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01427134188783505,"score_gpt":0.2483644630807107,"score_spread":0.2340931211928756,"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."}}