{"id":"W2972721403","doi":"10.1109/bhi.2019.8834449","title":"Validation of bcbio-nextgen Pipeline Based on NextSeq500 Exome Sequencing","year":2019,"lang":"en","type":"article","venue":"","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Agricultural Research Institute of Ontario","funders":"","keywords":"Pipeline (software); Exome sequencing; Pipeline transport; Computer science; Exome; Computational biology; Data mining; Engineering; Biology; Genetics; Gene; Mutation; Operating system","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":[0.01102738,0.001632934,0.001039297,0.001844091,0.001390391,0.001830607,0.001776459,0.001638374,0.006236316],"category_scores_gemma":[0.01359353,0.0009469728,0.001213698,0.001326821,0.0008004939,0.00122581,0.00198814,0.001747786,0.004299482],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00137454,"about_ca_system_score_gemma":0.003433772,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0096149,"about_ca_topic_score_gemma":0.009911723,"domain_scores_codex":[0.9949473,0.0008846816,0.0003775855,0.001492413,0.00184238,0.0004557053],"domain_scores_gemma":[0.9961268,0.001400305,0.0001992535,0.0004985466,0.001599188,0.0001759567],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.004991883,0.0008840092,0.06758769,0.00303275,0.001397692,0.00116081,0.001450794,0.07309282,0.5849789,0.009630765,0.06799299,0.1837988],"study_design_scores_gemma":[0.0004704886,0.000984659,0.05689998,0.0003538444,0.0005095833,0.00130433,0.0002293015,0.3512888,0.4912576,0.006768772,0.08954057,0.0003920864],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.3756386,0.004122606,0.5111656,0.002686574,0.001047039,0.002849265,0.04795926,0.03819471,0.01633629],"genre_scores_gemma":[0.2708811,0.0009865414,0.6299816,0.002583839,0.0001250558,0.00312351,0.08012441,0.005099866,0.007094084],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.01102738,"threshold_uncertainty_score":0.05831903,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00960869257338756,"score_gpt":0.2279279391476902,"score_spread":0.2183192465743027,"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."}}