{"id":"W2169202956","doi":"10.1126/scitranslmed.3008494","title":"Whole-Genome Sequencing in Newborn Screening Programs","year":2014,"lang":"en","type":"article","venue":"Science Translational Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":86,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"","keywords":"Whole genome sequencing; Genome; Newborn screening; Computational biology; DNA sequencing; Biology; Medicine; Genetics; DNA; 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":[0.0609576,0.0005869225,0.0008530039,0.0009173689,0.003683734,0.004091158,0.003423142,0.02595975,0.002851353],"category_scores_gemma":[0.1381578,0.0006574312,0.001141483,0.000805365,0.008923255,0.005752834,0.003660405,0.0204623,0.000672128],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004999119,"about_ca_system_score_gemma":0.01700311,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01977269,"about_ca_topic_score_gemma":0.03272955,"domain_scores_codex":[0.9458678,0.03652361,0.003916217,0.002770453,0.008410097,0.002511817],"domain_scores_gemma":[0.8423593,0.1370516,0.003803694,0.002088709,0.009620975,0.005075797],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0003182476,0.0000811781,0.00595963,0.001714498,0.0001117879,0.003071038,0.008924436,0.003012443,0.00261514,0.2123703,0.6402907,0.1215306],"study_design_scores_gemma":[0.00007043638,0.0001990722,0.005362249,0.006836838,0.0001147299,0.001563797,0.003568433,0.001554965,0.002062167,0.09147359,0.8870465,0.0001471359],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.002868755,0.009366205,0.004000206,0.9604042,0.01402244,0.0000566894,0.00009987135,0.00007544511,0.009106178],"genre_scores_gemma":[0.03632971,0.01251699,0.007109595,0.92227,0.01642745,0.0001782774,0.0000832069,0.0001075108,0.004977309],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.0609576,"threshold_uncertainty_score":0.3223785,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02237280162858522,"score_gpt":0.2720171037132177,"score_spread":0.2496443020846325,"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."}}