{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003628152,0.0008236977,0.0008491174,0.003620787,0.00168246,0.001242112,0.001428809,0.001186044,0.008591763],"category_scores_gemma":[0.006268521,0.0003731844,0.0007311177,0.00260628,0.000685394,0.000425623,0.001998554,0.001505808,0.003341766],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.005310033,"about_ca_system_score_gemma":0.01418461,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.3678936,"about_ca_topic_score_gemma":0.4448639,"domain_scores_codex":[0.9966986,0.0005212449,0.0001921677,0.0004788582,0.001672302,0.0004368225],"domain_scores_gemma":[0.9965718,0.0003277107,0.0001526642,0.0004202431,0.001853451,0.0006741562],"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":[0.00064263,0.0001554352,0.06359542,0.0009222864,0.000268655,0.005469711,0.002042477,0.002408684,0.04267424,0.02342565,0.3694798,0.488915],"study_design_scores_gemma":[0.00005734054,0.0001237755,0.08852477,0.0007329489,0.00009732769,0.00453285,0.0006177122,0.002084431,0.01401514,0.00642957,0.882682,0.0001022104],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.1357636,0.04402406,0.3210932,0.0535598,0.005163012,0.005108657,0.1693005,0.01129559,0.2546917],"genre_scores_gemma":[0.2949297,0.03910647,0.4371843,0.02026349,0.0009589518,0.002504026,0.0993954,0.00182695,0.1038308],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.3678936,"threshold_uncertainty_score":0.7315044,"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."}}