{"id":"W2884325264","doi":"10.1093/bioinformatics/bty621","title":"MAVIS: merging, annotation, validation, and illustration of structural variants","year":2018,"lang":"en","type":"article","venue":"Bioinformatics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"Simon Fraser University; University of British Columbia; Canada's Michael Smith Genome Sciences Centre","funders":"Genome British Columbia; BC Cancer Foundation; Genome Canada","keywords":"Annotation; Context (archaeology); Computer science; Key (lock); Computational biology; Process (computing); Genome; Data mining; Data science; Artificial intelligence; Biology; Genetics; Programming language; Gene","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":[0.005405349,0.001973198,0.001125402,0.006093763,0.00201707,0.00369088,0.004086189,0.00191319,0.03015362],"category_scores_gemma":[0.01775135,0.001270972,0.00236975,0.004011072,0.0009254302,0.001948148,0.004037036,0.002083595,0.01277557],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008197262,"about_ca_system_score_gemma":0.002442763,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003607768,"about_ca_topic_score_gemma":0.004804278,"domain_scores_codex":[0.9970518,0.0005787149,0.000316365,0.001129486,0.0007524479,0.0001711045],"domain_scores_gemma":[0.9945209,0.002697282,0.0005685736,0.001084683,0.0008263858,0.0003022002],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.003494641,0.0003387465,0.02660022,0.003598976,0.00113734,0.002694255,0.002683216,0.02211397,0.05679732,0.0416533,0.4348339,0.404054],"study_design_scores_gemma":[0.000535323,0.0004803304,0.01367892,0.0009568954,0.0005495769,0.002946096,0.0006723149,0.2508014,0.110622,0.07381814,0.5444763,0.0004627275],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"methods","genre_gemma":"software","genre_scores_codex":[0.02954522,0.001049042,0.6535563,0.001111151,0.0007008346,0.0003927253,0.05093163,0.2534624,0.009250619],"genre_scores_gemma":[0.09214147,0.0004922717,0.7766775,0.0005397017,0.0001791094,0.0007474895,0.09359702,0.03176343,0.003862056],"genre_candidate":"software","genre_consensus":null,"teacher_disagreement_score":0.03015362,"threshold_uncertainty_score":0.1008738,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009028182947586842,"score_gpt":0.2415304510133573,"score_spread":0.2325022680657705,"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."}}