{"id":"W2025096524","doi":"10.1371/journal.pone.0104452","title":"Gene-Specific Function Prediction for Non-Synonymous Mutations in Monogenic Diabetes Genes","year":2014,"lang":"en","type":"article","venue":"PLoS ONE","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"National Human Genome Research Institute","keywords":"In silico; Nonsynonymous substitution; Genetics; Mutation; Computational biology; Gene; Biology; Bioinformatics; Maturity onset diabetes of the young; Genome","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":[0.001550513,0.0006632892,0.0005755929,0.002148957,0.0002120224,0.0005769045,0.0003946614,0.0004968714,0.0006379155],"category_scores_gemma":[0.005084082,0.0001366134,0.0006502242,0.0007520517,0.0001816043,0.0002679241,0.0002830634,0.0003387995,0.0003947961],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002827389,"about_ca_system_score_gemma":0.0003038105,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009326355,"about_ca_topic_score_gemma":0.001349107,"domain_scores_codex":[0.9993087,0.0003344936,0.00005666878,0.0001300383,0.0001312551,0.00003881073],"domain_scores_gemma":[0.9976029,0.00173753,0.0002117754,0.000105539,0.0002269737,0.0001152373],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.002161044,0.0005237782,0.3971741,0.0006168308,0.0007968618,0.001770306,0.0002890276,0.2133405,0.2388599,0.002157737,0.002001778,0.1403083],"study_design_scores_gemma":[0.00004939586,0.0002974384,0.09059256,0.00004820515,0.0001995949,0.001046061,0.00008375917,0.8427141,0.06169208,0.001960616,0.001273973,0.00004224375],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9014315,0.00122235,0.09491857,0.0001284315,0.00003397422,0.00003305934,0.0008968759,0.0006752114,0.0006600785],"genre_scores_gemma":[0.9672751,0.0001809763,0.0312816,0.00003676337,0.000009639665,0.00001443716,0.00104185,0.00003980591,0.0001198455],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002148957,"threshold_uncertainty_score":0.00819999,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01726176269688942,"score_gpt":0.1945503538602769,"score_spread":0.1772885911633875,"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."}}