{"id":"W4389778747","doi":"10.1371/journal.pone.0295974","title":"In silico analysis of TRPM4 variants of unknown clinical significance","year":2023,"lang":"en","type":"article","venue":"PLoS ONE","topic":"Ion Channels and Receptors","field":"Neuroscience","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"Natural Sciences and Engineering Research Council of Canada; Russian Science Foundation","keywords":"Missense mutation; In silico; Genetics; Biology; Computational biology; Clinical significance; Mutation; Bioinformatics; Gene; Medicine; Pathology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004046773,0.00006419566,0.0004225477,0.0003357494,0.00001788254,0.000003658015,0.0001942517,0.00006650898,0.0002066912],"category_scores_gemma":[0.0008877669,0.00005533947,0.0001200115,0.002815139,0.0001217896,0.00005402094,0.00005092127,0.0001065241,0.00004900311],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008055713,"about_ca_system_score_gemma":0.00002958239,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004316235,"about_ca_topic_score_gemma":0.00002005439,"domain_scores_codex":[0.9986471,0.0001506443,0.0004727177,0.0002612856,0.000309563,0.0001586942],"domain_scores_gemma":[0.9990757,0.0005204573,0.0001524888,0.0001669672,0.00003864287,0.00004581003],"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":[0.00004112688,0.001773233,0.01018396,0.0000544366,0.0001466521,0.000008890973,0.0002974124,0.0004463785,0.9861514,0.0004426545,0.000193393,0.0002604537],"study_design_scores_gemma":[0.0003312794,0.0001231667,0.03496189,0.00005408793,0.0002176858,6.14731e-8,0.00004071759,0.02343526,0.940536,0.0001623975,0.0000445369,0.00009291305],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988686,0.000008008512,0.000008646859,0.0002734836,0.0001265307,0.0001085979,0.00003067567,0.00002251465,0.0005529241],"genre_scores_gemma":[0.9983611,0.0002284642,0.00005112141,0.00007559532,0.00004523271,0.00000702595,0.000002288301,0.000007341562,0.001221909],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0456154,"threshold_uncertainty_score":0.2263123,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1913857940206899,"score_gpt":0.3460362721629779,"score_spread":0.154650478142288,"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."}}