{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002287744,0.00006061325,0.00008106668,0.00005114001,0.00009733521,0.00002630604,0.0001545119,0.0001268153,0.00007561063],"category_scores_gemma":[0.002467666,0.00003802633,0.00008325982,0.0000501103,0.00002536869,0.000006677666,0.00001009076,0.00007148486,0.000001416863],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001623795,"about_ca_system_score_gemma":0.00147405,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003791747,"about_ca_topic_score_gemma":0.02101019,"domain_scores_codex":[0.9992318,0.00008520649,0.0001850913,0.00009461711,0.0002277588,0.0001755384],"domain_scores_gemma":[0.9988186,0.00007310553,0.0001044345,0.00007082891,0.0006788051,0.0002542616],"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":[0.00005769213,0.00002448961,0.7512558,0.00003937282,0.0001888825,0.0002114581,0.002703768,0.00004254329,0.006921025,0.0002937099,0.09131195,0.1469493],"study_design_scores_gemma":[0.006633908,0.0008585198,0.1530716,0.0004771032,0.0002263468,0.0004070605,0.07565264,0.0003012267,0.01430004,0.0006952403,0.746526,0.0008502501],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9915336,0.001672399,0.0001364077,0.00593523,0.0002188529,0.000114863,0.0003619858,9.333721e-7,0.00002567196],"genre_scores_gemma":[0.9953666,0.0003504055,0.00001643399,0.003329718,0.0007640554,0.00002311878,0.0001179747,0.000006593393,0.00002504009],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6552141,"threshold_uncertainty_score":0.9968538,"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."}}