{"id":"W4412166810","doi":"10.1017/cjn.2025.10227","title":"P.055 Novel pipeline for triage of variant of uncertain significance reclassification in epilepsy genomics","year":2025,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Vancouver Biotech (Canada)","funders":"","keywords":"Epilepsy; Pipeline (software); Triage; Genomics; Computational biology; Computer science; Medicine; Data science; Biology; Genetics; Medical emergency; Gene; Psychiatry; Genome","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":[0.003615757,0.0008748598,0.0005155926,0.002948553,0.0007286019,0.001911317,0.001224412,0.0008224816,0.01978016],"category_scores_gemma":[0.01587896,0.0005194415,0.0006365706,0.0009972749,0.0003160046,0.0009642761,0.001599884,0.0008576469,0.005789379],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001137309,"about_ca_system_score_gemma":0.002301556,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005465297,"about_ca_topic_score_gemma":0.009181293,"domain_scores_codex":[0.9983062,0.0004817344,0.0002118741,0.000478493,0.0003754176,0.0001463333],"domain_scores_gemma":[0.9927298,0.00438054,0.000693075,0.000499821,0.00125193,0.000444718],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002793424,0.0005475333,0.1367124,0.0004672402,0.0002067482,0.001976923,0.0007727679,0.005568618,0.01293002,0.003566388,0.1581421,0.6763157],"study_design_scores_gemma":[0.00186064,0.001699103,0.1663007,0.0006351899,0.0004946786,0.008256119,0.0009132047,0.5625365,0.07670329,0.02954582,0.1506154,0.0004393766],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.1879225,0.001272863,0.5874438,0.01177807,0.0007717087,0.002829693,0.02636074,0.1616758,0.01994489],"genre_scores_gemma":[0.399931,0.0003176946,0.5711962,0.001372341,0.0003609667,0.001084421,0.01538799,0.002820102,0.007529348],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.01978016,"threshold_uncertainty_score":0.06617123,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03409624340573526,"score_gpt":0.281138249963554,"score_spread":0.2470420065578187,"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."}}