{"id":"W2103593166","doi":"10.1373/clinchem.2013.209213","title":"Whole Genome Sequencing as a Diagnostic Test: Challenges and Opportunities","year":2013,"lang":"en","type":"review","venue":"Clinical Chemistry","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":90,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Health Network; University of Toronto; Mount Sinai Hospital","funders":"","keywords":"Medicine; Standardization; Overdiagnosis; Intensive care medicine; Whole genome sequencing; Harm; Risk analysis (engineering); Computer science; Psychology; Genome; Pathology; Biology","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002602045,0.000465041,0.00103734,0.00001816636,0.00006894961,0.00005699899,0.0003773422,0.000843919,0.00006942407],"category_scores_gemma":[0.002402636,0.0003977506,0.0005014415,0.00002131226,0.0002883647,0.000003087627,0.000431592,0.0003509139,0.00008358409],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002567469,"about_ca_system_score_gemma":0.0006488402,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001632415,"about_ca_topic_score_gemma":4.536992e-7,"domain_scores_codex":[0.997921,0.00007356289,0.0007694287,0.0007991986,0.0001076081,0.0003291582],"domain_scores_gemma":[0.9978125,0.000680208,0.0003397723,0.000665346,0.00008335815,0.000418806],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00000383118,0.0001413486,0.000009148506,0.01463628,0.0003033841,0.0001832681,0.00001212426,1.259428e-7,0.0004635398,0.00001388557,0.00121503,0.983018],"study_design_scores_gemma":[0.0001454322,0.0001050281,0.000007444314,0.001383891,0.0003681557,0.0002127295,0.00008186728,4.547574e-7,0.00003466777,0.00006797976,0.9971075,0.0004848259],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.003310165,0.9929852,6.40778e-7,0.00008607285,0.0000956958,0.000296621,0.0002393714,0.00002006999,0.002966101],"genre_scores_gemma":[0.0004831088,0.9926789,0.00003626759,0.0001546865,0.001134361,0.0001491972,0.001143762,0.00007843898,0.004141326],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9958925,"threshold_uncertainty_score":0.9998474,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1771303330188438,"score_gpt":0.3713069291263197,"score_spread":0.1941765961074759,"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."}}