{"id":"W4415771795","doi":"10.1101/2025.10.31.685955","title":"Classification models distinguish functional and trafficking effects of KCNQ1 variants to enhance variant interpretation","year":2025,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Artificial Intelligence in Medicine (Canada)","funders":"National Institutes of Health; Deutsche Forschungsgemeinschaft; Alexander von Humboldt-Stiftung","keywords":"Missense mutation; Classifier (UML); Mutation; Genetic testing; Gating; Disease","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":[0.0021665,0.001136333,0.000675916,0.00117559,0.0003479037,0.0008437696,0.0007170772,0.001069372,0.001180497],"category_scores_gemma":[0.005265391,0.0002105289,0.001035958,0.0004574966,0.0002324261,0.0005478972,0.0004665614,0.001164568,0.0004773297],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005804836,"about_ca_system_score_gemma":0.0007501914,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005311384,"about_ca_topic_score_gemma":0.006671364,"domain_scores_codex":[0.9993622,0.0001759542,0.00005648318,0.0001850967,0.0001300657,0.00009025246],"domain_scores_gemma":[0.9976495,0.00150585,0.0001713523,0.0001643376,0.0004331339,0.0000758633],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.0006719809,0.0004660836,0.07611034,0.0001616232,0.0003553581,0.0004748816,0.0001594762,0.6378174,0.01805578,0.002952622,0.009109193,0.2536652],"study_design_scores_gemma":[0.00001082315,0.00004264961,0.001467199,0.000008278687,0.00002268976,0.00004116739,0.000008742302,0.995338,0.001376164,0.001361458,0.0003151563,0.00000760346],"study_design_candidate":"simulation_or_modeling","study_design_consensus":"simulation_or_modeling","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.493731,0.001118538,0.4936407,0.001156409,0.0002409403,0.0002263772,0.002597652,0.004370125,0.002918301],"genre_scores_gemma":[0.9220465,0.000183326,0.07365701,0.0003050824,0.00007427201,0.0001131129,0.002318936,0.0001428682,0.001158875],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005311384,"threshold_uncertainty_score":0.01145768,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009990565247538297,"score_gpt":0.2416019767576182,"score_spread":0.2316114115100799,"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."}}