{"id":"W4205361082","doi":"10.1017/cjn.2021.385","title":"P.109 Diagnostic Yield of Targeted Exome Sequencing in West Syndrome","year":2021,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Vancouver Biotech (Canada)","funders":"","keywords":"Exome sequencing; Exome; Genetic heterogeneity; Epilepsy; DNA sequencing; Genetic diagnosis; Medicine; Genetics; Bioinformatics; Biology; Gene; Mutation; Phenotype; Psychiatry","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"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":[0.0008963874,0.0005438891,0.0002527522,0.0008312137,0.0002545022,0.0005464983,0.0002925087,0.0005998485,0.002568435],"category_scores_gemma":[0.005622558,0.0001455936,0.0002176921,0.0004385967,0.0004049497,0.0003270825,0.0004764709,0.0004285171,0.0006741394],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000219853,"about_ca_system_score_gemma":0.0001824228,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005029564,"about_ca_topic_score_gemma":0.0005918005,"domain_scores_codex":[0.9993386,0.0001737651,0.00008382337,0.0001452978,0.0001979115,0.00006055187],"domain_scores_gemma":[0.997564,0.001735937,0.0002405492,0.0001237721,0.0002323341,0.000103347],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001177278,0.0001208805,0.6297724,0.0004102533,0.0002190172,0.1013169,0.0005880935,0.002436994,0.07149645,0.002127982,0.01081615,0.1795177],"study_design_scores_gemma":[0.0001541356,0.0009325597,0.4637711,0.0003660868,0.0005765787,0.4077551,0.0008428358,0.01908219,0.07474388,0.009003044,0.02270707,0.00006542129],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9739274,0.003076965,0.01279692,0.002343365,0.0001655345,0.00006082376,0.001244081,0.0002163614,0.006168402],"genre_scores_gemma":[0.9952076,0.0005596305,0.003124001,0.0002979005,0.00006420709,0.0000149902,0.000414396,0.00003126844,0.0002860172],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002568435,"threshold_uncertainty_score":0.008592248,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02455441150736073,"score_gpt":0.2366546225683731,"score_spread":0.2121002110610123,"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."}}