{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006077115,0.00008381595,0.0000899552,0.0001010429,0.0001022707,0.00001389958,0.0002072128,0.00002773674,0.00001468821],"category_scores_gemma":[0.00008332062,0.0000685882,0.00002511077,0.0002967709,0.0004152454,0.00000801164,0.00001828452,0.00005027389,0.000003639215],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000145783,"about_ca_system_score_gemma":0.0002019772,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004612467,"about_ca_topic_score_gemma":0.00008240819,"domain_scores_codex":[0.9990264,0.00001894322,0.000168074,0.0002938418,0.0002673874,0.0002253912],"domain_scores_gemma":[0.9996276,0.000009653427,0.00003395975,0.0001437751,0.00007253921,0.0001124572],"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":[0.00002380406,0.00001574329,0.01486738,0.00001005762,0.000003740152,0.000002787709,0.0002336452,0.002305879,0.9429666,0.0006293788,0.00001095157,0.03893002],"study_design_scores_gemma":[0.004836912,0.001251048,0.7548991,0.000325012,0.00004446329,0.00009651576,0.001251486,0.0251359,0.009161744,0.006491813,0.1955637,0.0009422833],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9694816,0.0004807085,0.02518414,0.001633936,0.0001221209,0.0001829012,0.000007924605,0.00001110949,0.00289559],"genre_scores_gemma":[0.9939371,0.000009018506,0.005273429,0.0003029392,0.0002536737,0.000007728028,0.0001448939,0.000006599612,0.00006460929],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9338049,"threshold_uncertainty_score":0.2796946,"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."}}