{"id":"W3210799493","doi":"10.1503/cmaj.210549","title":"Genome sequencing as a diagnostic test","year":2021,"lang":"en","type":"article","venue":"Canadian Medical Association Journal","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":52,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Canadian Institutes of Health Research; Hospital for Sick Children; University of Toronto; Genome Canada","keywords":"Genome; DNA sequencing; Human genome; Genetic testing; Whole genome sequencing; Test (biology); Computational biology; Personal genomics; Computer science; Genetics; Medicine; Bioinformatics; Biology; DNA; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0003333308,0.00007353301,0.00008603066,0.00003463325,0.0001783811,0.00007645893,0.0001258227,0.0002128133,0.001501273],"category_scores_gemma":[0.01187238,0.00007469828,0.00008465784,0.00007691757,0.00001573572,0.000002764883,0.00002364375,0.0002245401,0.0001233345],"about_ca_system_candidate":true,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002996409,"about_ca_system_score_gemma":0.006750054,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003546049,"about_ca_topic_score_gemma":0.008733489,"domain_scores_codex":[0.9989719,0.00006052464,0.0001829443,0.000138966,0.0003475268,0.0002981077],"domain_scores_gemma":[0.9983127,0.0001021417,0.0000747416,0.00009073853,0.0003149407,0.001104776],"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":[0.00002417086,0.0003527206,0.417202,0.00006552491,0.001265851,0.04106123,0.0007922475,0.0002930421,0.2396901,0.0007204039,0.2549105,0.04362222],"study_design_scores_gemma":[0.0005320873,0.00007832554,0.04071383,0.00002779276,0.000029188,0.002787607,0.0004594639,0.00002082856,0.001580607,0.0002384982,0.9533117,0.000220087],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9862804,0.001889632,0.00005035407,0.006894069,0.0004342463,0.0000392212,0.00005921257,0.000003817044,0.004348977],"genre_scores_gemma":[0.9863795,0.0008227093,0.00005739811,0.009720462,0.001638689,0.000003019555,0.00008859073,0.00001267178,0.001276979],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6984012,"threshold_uncertainty_score":0.9994115,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004155694556041457,"score_gpt":0.2081146966669319,"score_spread":0.2039590021108904,"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."}}