{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.006835971,0.001040679,0.0009747127,0.003722801,0.0006681329,0.003344618,0.001531994,0.003724565,0.02964451],"category_scores_gemma":[0.0248579,0.0004295341,0.0005903508,0.001783833,0.002275289,0.003394916,0.002073387,0.005504664,0.01801595],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002149657,"about_ca_system_score_gemma":0.002112622,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002867921,"about_ca_topic_score_gemma":0.002663506,"domain_scores_codex":[0.992925,0.002811996,0.0003217009,0.001137148,0.002503983,0.0003000461],"domain_scores_gemma":[0.9764833,0.01231841,0.001158709,0.001658738,0.00575354,0.002627209],"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":[0.0003428322,0.0001199535,0.01041901,0.0005623961,0.0001156083,0.001181026,0.0001245074,0.0008176051,0.003431102,0.03683753,0.3731873,0.5728611],"study_design_scores_gemma":[0.00007507069,0.0003967269,0.009032072,0.003232811,0.0001762186,0.01091691,0.0003710909,0.00296142,0.004712497,0.09903418,0.8689407,0.0001503224],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"review","genre_scores_codex":[0.01087245,0.1666425,0.1298734,0.4584458,0.04319118,0.0004215623,0.005140705,0.005543883,0.1798684],"genre_scores_gemma":[0.1855135,0.2058309,0.1739952,0.2761179,0.07051513,0.000503686,0.006228736,0.002034681,0.07926019],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.02964451,"threshold_uncertainty_score":0.0991708,"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."}}