{"id":"W2138170649","doi":"10.1136/jmedgenet-2011-100223","title":"What can exome sequencing do for you?","year":2011,"lang":"en","type":"review","venue":"Journal of Medical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":382,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Children's Hospital; McGill University and Génome Québec Innovation Centre","funders":"Canadian Institutes of Health Research","keywords":"Exome sequencing; Exome; Human genome; Personal genomics; DNA sequencing; Genome; Human genetics; Biology; Computational biology; Personalized medicine; Mendelian inheritance; Genetics; Data science; Computer science; Gene; Mutation","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":[0.003496831,0.001460108,0.002256536,0.002188634,0.0006041532,0.00237088,0.001414982,0.004467695,0.004617243],"category_scores_gemma":[0.006082104,0.0003784526,0.0009118679,0.001561534,0.00200967,0.006589722,0.001199597,0.00439878,0.003425306],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009597748,"about_ca_system_score_gemma":0.001312941,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001283746,"about_ca_topic_score_gemma":0.001519911,"domain_scores_codex":[0.9992816,0.0002482454,0.00008352757,0.00011611,0.0002222638,0.00004829933],"domain_scores_gemma":[0.9966679,0.002335257,0.0001431575,0.00009427535,0.0005335183,0.0002259058],"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":[0.00008350728,0.00003764277,0.0003409318,0.0051968,0.00008670674,0.0003576704,0.0000927561,0.0002857095,0.0003757295,0.01071535,0.08103277,0.9013943],"study_design_scores_gemma":[0.00002958534,0.00008408586,0.0008814611,0.007133336,0.00007183499,0.00232674,0.0002364994,0.0001736267,0.0002743446,0.02701875,0.9617133,0.00005632421],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00008575782,0.9801748,0.0008141653,0.01508625,0.001991093,0.00001003606,0.00003038484,0.00002453851,0.001782981],"genre_scores_gemma":[0.0005940858,0.9917575,0.00109592,0.003801696,0.001664874,0.00001733074,0.00003194348,0.000005416709,0.001031141],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004617243,"threshold_uncertainty_score":0.01849318,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06384831906300094,"score_gpt":0.3476388436216152,"score_spread":0.2837905245586143,"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."}}