{"id":"W3096990517","doi":"10.1038/s41436-020-01005-9","title":"Impact of integrated translational research on clinical exome sequencing","year":2020,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":65,"is_retracted":false,"has_abstract":false,"ca_institutions":"Princess Margaret Cancer Centre","funders":"","keywords":"Exome sequencing; Medicine; Exome; Genetic testing; Disease; Medical genetics; Internal medicine; Phenotype; Genetics; Biology; Gene","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":[0.131712,0.002025438,0.002848066,0.002915325,0.0009521609,0.00819736,0.004883494,0.006672268,0.02818525],"category_scores_gemma":[0.1180484,0.0008673085,0.003184339,0.004758534,0.00389286,0.009190098,0.01020901,0.006865335,0.003904927],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004875811,"about_ca_system_score_gemma":0.02330107,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00401969,"about_ca_topic_score_gemma":0.00370121,"domain_scores_codex":[0.9606271,0.02866569,0.002139452,0.003139892,0.00326445,0.002163278],"domain_scores_gemma":[0.7324331,0.1663898,0.01259574,0.03213756,0.03864257,0.01780122],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.008808249,0.002291757,0.0596295,0.008029495,0.003951506,0.001088118,0.001715735,0.01994972,0.02148312,0.1228699,0.08851023,0.6616727],"study_design_scores_gemma":[0.00417329,0.006395451,0.1652512,0.01246942,0.00445197,0.003101899,0.00315113,0.02451642,0.01552565,0.3636298,0.3968111,0.0005225445],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.1015207,0.09551675,0.1426618,0.5686368,0.01387594,0.00163386,0.01777167,0.002511617,0.05587075],"genre_scores_gemma":[0.4883515,0.07103344,0.2573047,0.1197657,0.0210822,0.0020188,0.0295903,0.001232747,0.009620724],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.131712,"threshold_uncertainty_score":0.6965678,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2294506975230856,"score_gpt":0.4860190483867198,"score_spread":0.2565683508636342,"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."}}