{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004289951,0.001028461,0.002026523,0.002453174,0.0003859602,0.001899884,0.001632085,0.003438019,0.002279145],"category_scores_gemma":[0.006254565,0.0004402549,0.000773368,0.002287046,0.002458193,0.00310188,0.0009784941,0.004948457,0.001782261],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001365117,"about_ca_system_score_gemma":0.002337818,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001935606,"about_ca_topic_score_gemma":0.002218497,"domain_scores_codex":[0.9984766,0.0005230958,0.0001627958,0.0002310752,0.0005237648,0.00008275962],"domain_scores_gemma":[0.9943527,0.003722036,0.0003886798,0.0001607067,0.001077337,0.000298502],"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":[0.00006593508,0.00003472547,0.0004343802,0.00901028,0.0001068494,0.0004393493,0.00007918271,0.0004176424,0.0008998555,0.008730374,0.04434773,0.9354337],"study_design_scores_gemma":[0.00001958504,0.00009184457,0.00135649,0.009942248,0.0001572044,0.006041192,0.0001631275,0.0003217219,0.0007757184,0.01416755,0.9669043,0.00005899933],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00006438305,0.995533,0.0004387098,0.002877497,0.0005398506,0.000002742614,0.00001068912,0.000009808713,0.0005233567],"genre_scores_gemma":[0.0008301199,0.9964343,0.0005896084,0.00114204,0.0006758788,0.000005248593,0.00001819629,0.000004067318,0.0003004532],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004289951,"threshold_uncertainty_score":0.02268773,"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."}}