{"id":"W4411014486","doi":"10.20944/preprints202506.0195.v1","title":"Likely Pathogenicity of Uncharacterized KCNQ1 and KCNE1 Variants","year":2025,"lang":"en","type":"preprint","venue":"Preprints.org","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Natural Sciences and Engineering Research Council of Canada","keywords":"Pathogenicity; Pathogenicity island; Genetics; Biology; Computational biology; Gene; Genome; Microbiology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"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":[0.000824837,0.0005758206,0.0005747733,0.001289293,0.0004655167,0.0006964191,0.0006024954,0.0007757162,0.00259775],"category_scores_gemma":[0.004261562,0.0001498647,0.0005861966,0.001457001,0.0003880138,0.0003645477,0.0003921584,0.0003614007,0.0006132854],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003239108,"about_ca_system_score_gemma":0.000338513,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001077126,"about_ca_topic_score_gemma":0.001674705,"domain_scores_codex":[0.9990969,0.0001020615,0.0001440632,0.0003307441,0.0002328967,0.00009339927],"domain_scores_gemma":[0.9973158,0.001369014,0.0007082232,0.0001743082,0.0002255101,0.0002070289],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001671241,0.0001296876,0.9284202,0.0004953422,0.0005559894,0.01256762,0.0003353853,0.003171321,0.0251937,0.0006128844,0.002586908,0.02425971],"study_design_scores_gemma":[0.0003185967,0.0005781304,0.860062,0.000309226,0.001483997,0.06743097,0.0006177301,0.02377392,0.02874755,0.003208748,0.01334134,0.0001277002],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923679,0.001386231,0.001797547,0.00009027463,0.00003738047,0.00002793113,0.003648665,0.0001437748,0.000500287],"genre_scores_gemma":[0.9916211,0.000296297,0.002047934,0.00007140376,0.00003584651,0.00001248311,0.005715292,0.00004005059,0.0001596085],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00259775,"threshold_uncertainty_score":0.008690357,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05930047287397333,"score_gpt":0.3324102355464382,"score_spread":0.2731097626724648,"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."}}