{"id":"W2559790983","doi":"10.1056/nejme1614384","title":"When One Diagnosis Is Not Enough","year":2016,"lang":"en","type":"letter","venue":"New England Journal of Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary; Alberta Children's Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Medicine; Exome sequencing; Genetic testing; Genetic diagnosis; Rare disease; Diagnostic test; Disease; Genetic counseling; Intensive care medicine; Pediatrics; Mutation; Pathology; Internal medicine; Genetics; 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":[0.002756115,0.0006773191,0.001078824,0.001130051,0.002344441,0.002366458,0.001286966,0.01088978,0.00696365],"category_scores_gemma":[0.02195449,0.0003390712,0.0007013284,0.0005653584,0.003234433,0.005938808,0.002354827,0.01601969,0.006437446],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001989957,"about_ca_system_score_gemma":0.001889755,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001144823,"about_ca_topic_score_gemma":0.002584992,"domain_scores_codex":[0.9975771,0.0008122911,0.0002377095,0.0003294741,0.0006591371,0.0003841766],"domain_scores_gemma":[0.99258,0.003605143,0.0006884943,0.0005315106,0.001333994,0.001260881],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002276733,0.0001082314,0.01459653,0.0004332468,0.00006324687,0.2473172,0.001184828,0.0002519751,0.001339154,0.02481153,0.59127,0.1183964],"study_design_scores_gemma":[0.0000796458,0.0001930906,0.003163681,0.002088106,0.00007667786,0.4409191,0.003445128,0.0008760257,0.0006373217,0.08930978,0.4590691,0.0001423917],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.00717188,0.01463886,0.003296596,0.9353949,0.01899997,0.00004901948,0.0001022969,0.0001561283,0.02019033],"genre_scores_gemma":[0.1432139,0.02229632,0.006874405,0.7293702,0.08170894,0.00007039936,0.0003360408,0.0001485873,0.01598122],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.01088978,"threshold_uncertainty_score":0.0232957,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01910313945571889,"score_gpt":0.2464161792218884,"score_spread":0.2273130397661695,"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."}}