{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002941706,0.0004254451,0.0005114619,0.0001157919,0.0004320368,0.00008141843,0.0007299267,0.0002283887,0.00002841081],"category_scores_gemma":[0.00205144,0.0003637602,0.0000948765,0.00008798115,0.0003521226,0.000007293518,0.000226389,0.0001695617,0.000006499097],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001195116,"about_ca_system_score_gemma":0.0004528264,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005369252,"about_ca_topic_score_gemma":0.001195354,"domain_scores_codex":[0.9976864,0.00003238775,0.0005371787,0.0008064634,0.0002414915,0.0006960364],"domain_scores_gemma":[0.9976546,0.0002096776,0.0003443093,0.001227397,0.0002574046,0.0003066643],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001569502,0.00007252122,0.02797205,0.000114746,0.00008869362,0.0001287649,0.0005266781,0.003112337,0.9669616,0.000003258798,0.0001385678,0.0007238564],"study_design_scores_gemma":[0.01760324,0.01126233,0.4552322,0.001450595,0.0009926211,0.0008615133,0.004388732,0.0224447,0.4528249,0.001540555,0.02776531,0.003633313],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9896796,0.006419394,0.001584286,0.0004782193,0.0002392137,0.001139771,0.000236507,0.00001973898,0.0002032483],"genre_scores_gemma":[0.9919262,0.0009968419,0.004690225,0.0005120585,0.0007867841,0.0002537402,0.0004596825,0.00009116867,0.0002833157],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5141367,"threshold_uncertainty_score":0.9998814,"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."}}