{"id":"W3122969903","doi":"","title":"The Role of Whole Genome and Whole Exome Sequencing in Preventive Genomic Sequencing Programs","year":2015,"lang":"en","type":"article","venue":"","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"","keywords":"Exome sequencing; Whole genome sequencing; Exome; Genomic sequencing; Computational biology; Genome; Genetics; DNA sequencing; Genomics; Biology; Mutation; DNA; 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":[0.03871951,0.0009208856,0.001404361,0.002837551,0.000629176,0.002880057,0.002157636,0.002319614,0.005901762],"category_scores_gemma":[0.0597361,0.000550264,0.000860888,0.00193382,0.001325217,0.004220102,0.002580844,0.003305872,0.0009894426],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001579642,"about_ca_system_score_gemma":0.005013585,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005500075,"about_ca_topic_score_gemma":0.00726793,"domain_scores_codex":[0.9895973,0.00693068,0.0005576104,0.001192499,0.001353541,0.0003684145],"domain_scores_gemma":[0.8897915,0.07894994,0.004970979,0.008704104,0.01272172,0.004861901],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.001528098,0.000486861,0.1023462,0.001763695,0.0007286684,0.0004631937,0.0009398893,0.006339418,0.01024826,0.0376255,0.04514902,0.7923812],"study_design_scores_gemma":[0.0007272041,0.002810585,0.3107535,0.006457146,0.001741755,0.002597716,0.002130743,0.04039616,0.01875005,0.2473475,0.3658776,0.000410161],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.1547681,0.1688101,0.4076424,0.2041342,0.007550843,0.001105743,0.009796917,0.003008233,0.04318358],"genre_scores_gemma":[0.5602046,0.07894885,0.3023306,0.0403959,0.006801713,0.0009452181,0.003485523,0.0006062751,0.006281189],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.03871951,"threshold_uncertainty_score":0.2047707,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01426993209028806,"score_gpt":0.2286939304122822,"score_spread":0.2144239983219942,"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."}}