{"id":"W2018584963","doi":"10.1002/ana.22647","title":"Exome sequencing: Dual role as a discovery and diagnostic tool","year":2011,"lang":"en","type":"review","venue":"Annals of Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":178,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"Exome sequencing; Exome; Context (archaeology); Sanger sequencing; DNA sequencing; Computational biology; Genomics; Genetic testing; Biology; Genetics; Bioinformatics; Medicine; Mutation; Genome; 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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00009840947,0.000301811,0.0007385758,0.00008284303,0.00003513336,0.00001679586,0.0002087214,0.0003803538,0.00002145442],"category_scores_gemma":[0.0004080657,0.0002559482,0.0002830399,0.00005546096,0.000159425,0.000004279942,0.0002919441,0.0001499533,0.00001605033],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001542966,"about_ca_system_score_gemma":0.0003010598,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002773164,"about_ca_topic_score_gemma":0.000006397177,"domain_scores_codex":[0.9986219,0.0001437753,0.0003752192,0.0005121237,0.00005731409,0.0002896894],"domain_scores_gemma":[0.9990538,0.0001030766,0.0002601502,0.0004225565,0.00006791625,0.00009252114],"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":[0.0003356222,0.0004033319,0.0002046237,0.007046969,0.001179782,0.0009903357,0.00009134565,0.000004385001,0.001590804,0.00271763,0.006207684,0.9792275],"study_design_scores_gemma":[0.00008892037,0.0009180742,0.00009015176,0.0001328524,0.0001857365,0.000546538,0.000003645722,2.203096e-7,0.0001265469,0.0005508941,0.9971092,0.0002472301],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.05042778,0.9484453,0.000001840471,0.00005738402,0.0001365144,0.0002561533,0.0001775277,0.0000052494,0.0004923156],"genre_scores_gemma":[0.007133295,0.9911928,0.000006081547,0.0009729788,0.0001959343,0.00004481641,0.0002331567,0.00004481085,0.0001761141],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9909015,"threshold_uncertainty_score":0.9999893,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06618032077854993,"score_gpt":0.3212019902420953,"score_spread":0.2550216694635454,"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."}}