{"id":"W2745065704","doi":"10.1038/gim.2017.119","title":"Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test","year":2017,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":565,"is_retracted":false,"has_abstract":true,"ca_institutions":"St Joseph's Health Centre; University of Alberta; Public Health Ontario; Ted Rogers Centre for Heart Research; William Osler Health System; Ontario Genomics; Institute for Clinical Evaluative Sciences; Children's Hospital of Eastern Ontario; Hospital for Sick Children; University of Toronto; British Columbia Children's Hospital; SickKids Foundation","funders":"Canadian Institutes of Health Research; Hospital for Sick Children; University of Toronto; Genome Canada; GlaxoSmithKline","keywords":"Exome sequencing; Whole genome sequencing; Genetic testing; Medicine; DNA sequencing; Exome; Genetics; Computational biology; Medical diagnosis; Bioinformatics; Gene; Genome; Biology; Phenotype; Internal medicine; Pathology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.01079328,0.0009204987,0.001232505,0.002179732,0.0002818972,0.001360423,0.0007667862,0.000922482,0.00409786],"category_scores_gemma":[0.02636022,0.0003054517,0.0006397722,0.001275622,0.0008646078,0.001217093,0.001365529,0.0007626967,0.001228941],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006349878,"about_ca_system_score_gemma":0.0003563988,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001282735,"about_ca_topic_score_gemma":0.001268828,"domain_scores_codex":[0.9934077,0.003084931,0.0004149983,0.001507854,0.001229987,0.0003546449],"domain_scores_gemma":[0.974874,0.01736988,0.00220901,0.002507279,0.002495999,0.0005438438],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009821125,0.0001175141,0.7508724,0.0004881375,0.0003814491,0.000652553,0.0002194036,0.002100658,0.01656158,0.001951813,0.004708526,0.2209639],"study_design_scores_gemma":[0.00008018014,0.001401094,0.9095545,0.0003925816,0.0005111998,0.01399967,0.0002737978,0.01706105,0.03051657,0.005869434,0.02026001,0.00007992645],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7866135,0.03744338,0.1462841,0.006447136,0.000626089,0.0002318656,0.005590274,0.002505403,0.01425824],"genre_scores_gemma":[0.9643814,0.002747045,0.02923609,0.0008799686,0.0003615442,0.00007361169,0.001432045,0.000118469,0.000769754],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01079328,"threshold_uncertainty_score":0.05708104,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0207446438916439,"score_gpt":0.2604915949514327,"score_spread":0.2397469510597888,"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."}}