{"id":"W2416272036","doi":"10.1136/jmedgenet-2015-103578.28","title":"MG-129 Our experience of<i>in silico</i>gene panel testing for clinically heterogeneous disorders using exome sequencing","year":2015,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Exome sequencing; Sanger sequencing; Genetics; Exome; DNA sequencing; Indel; Bioinformatics; Computational biology; Medicine; Biology; Gene; Single-nucleotide polymorphism; Mutation; Genotype","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.006372151,0.0007611891,0.0002986982,0.0007715641,0.001021572,0.001970421,0.001137859,0.001632745,0.007672603],"category_scores_gemma":[0.008584978,0.0002994096,0.0004931359,0.0008042878,0.00136926,0.001287961,0.002363274,0.002646481,0.003580262],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009855072,"about_ca_system_score_gemma":0.001822974,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004702756,"about_ca_topic_score_gemma":0.007251129,"domain_scores_codex":[0.9973925,0.001174624,0.0001886393,0.0004367271,0.0006014753,0.0002058397],"domain_scores_gemma":[0.9938321,0.001648761,0.0002825219,0.0008021282,0.001190237,0.002244216],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0007543467,0.001726252,0.1309063,0.0007123071,0.0002170867,0.06512084,0.00953179,0.002449547,0.02604896,0.00556801,0.1325735,0.624391],"study_design_scores_gemma":[0.0002852307,0.002993463,0.1018619,0.001090929,0.0001982976,0.2001748,0.005495357,0.007916076,0.02182607,0.0123159,0.645555,0.0002869802],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5924748,0.01583406,0.119322,0.08731913,0.004881001,0.001574387,0.00248373,0.005598578,0.1705123],"genre_scores_gemma":[0.7412966,0.01091175,0.1427778,0.05617122,0.00326762,0.0004076292,0.002454848,0.002511916,0.04020057],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007672603,"threshold_uncertainty_score":0.03369957,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1108650225422151,"score_gpt":0.3619732819123574,"score_spread":0.2511082593701423,"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."}}