{"id":"W2407404038","doi":"10.1503/cmaj.150823","title":"Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit","year":2016,"lang":"en","type":"article","venue":"Canadian Medical Association Journal","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":102,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; McGill Genome Centre; Children's Hospital of Eastern Ontario","funders":"","keywords":"Medicine; Pediatrics; Medical diagnosis; Neonatal intensive care unit; Newborn screening; Genetic testing; Intensive care medicine; Bioinformatics; Internal medicine; Pathology; Biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"about_ca":true,"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":[0.004477657,0.000394145,0.0004624246,0.00192649,0.0003040855,0.0008587512,0.0005098056,0.0006181655,0.001495157],"category_scores_gemma":[0.006896195,0.0001745062,0.0004367309,0.0008519032,0.0002805422,0.0002870037,0.0005944417,0.0006361645,0.0005226424],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006057385,"about_ca_system_score_gemma":0.0009437366,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001867667,"about_ca_topic_score_gemma":0.003605729,"domain_scores_codex":[0.9978197,0.001186922,0.0001832252,0.0003034797,0.0004180602,0.00008868622],"domain_scores_gemma":[0.9952827,0.002954797,0.0006248824,0.0002573538,0.0006694011,0.0002108324],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001973628,0.0003590462,0.4219468,0.002224799,0.0007457169,0.00460913,0.001399375,0.01032662,0.1853756,0.002803348,0.01460238,0.3536335],"study_design_scores_gemma":[0.0004970894,0.003586621,0.5699355,0.003223408,0.001237763,0.02000426,0.001719955,0.1163012,0.170331,0.0148362,0.09803222,0.0002948573],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.694018,0.02862951,0.2412356,0.00478142,0.0007498568,0.00196407,0.01546715,0.001898559,0.01125578],"genre_scores_gemma":[0.7390063,0.005024372,0.2464282,0.002268995,0.0002634941,0.0007927623,0.004976563,0.0001474275,0.001091749],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004477657,"threshold_uncertainty_score":0.02368039,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02015274383887897,"score_gpt":0.2426534385231964,"score_spread":0.2225006946843175,"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."}}