{"id":"W4414015838","doi":"10.11159/icbes25.149","title":"Using Orthogonal Structural Analyses to Evaluate Variants of Unknown Significance Involved In Mitofusin-2","year":2025,"lang":"en","type":"article","venue":"Proceedings of the World Congress on Electrical Engineering and Computer Systems and Science","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Computer science; Artificial intelligence; Computational biology; Pattern recognition (psychology); Biology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005699449,0.0004512586,0.0002372629,0.0004905159,0.0003328739,0.0003598752,0.0001836558,0.0003784448,0.0009211888],"category_scores_gemma":[0.001141084,0.0001195213,0.000381347,0.0004584411,0.0004662186,0.0001611109,0.0004132281,0.0005452699,0.0001105943],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002036552,"about_ca_system_score_gemma":0.0002383562,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001558969,"about_ca_topic_score_gemma":0.002297149,"domain_scores_codex":[0.999607,0.00008130281,0.00003649976,0.0001078944,0.0001129589,0.00005436831],"domain_scores_gemma":[0.9994796,0.0001688555,0.0001764352,0.00003694101,0.00006285599,0.0000752208],"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":[0.0009827021,0.0002334782,0.02396262,0.00006781176,0.0001733688,0.0005638113,0.0001435252,0.001798709,0.9615414,0.0006300305,0.000125757,0.009776874],"study_design_scores_gemma":[0.000225668,0.002986244,0.2341248,0.0000282469,0.0006604016,0.006190619,0.000345808,0.04870823,0.7001758,0.001286162,0.005164614,0.0001032917],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941581,0.0001086032,0.004982207,0.00003214071,0.000009047022,0.0000326746,0.0003409797,0.0000327821,0.0003034294],"genre_scores_gemma":[0.9881691,0.0001356274,0.01072949,0.00005010968,0.00001264023,0.00003957249,0.0006224198,0.00003976034,0.000201315],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001558969,"threshold_uncertainty_score":0.003099799,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02183550310425449,"score_gpt":0.2882233984463892,"score_spread":0.2663878953421347,"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."}}