{"id":"W4415766754","doi":"10.1016/j.gimo.2025.103469","title":"Functional analysis of FH variants of uncertain significance using Caenorhabditis elegans model","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genetics, Aging, and Longevity in Model Organisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"Office of Research Infrastructure Programs, National Institutes of Health; Canadian Institutes of Health Research","keywords":"Functional analysis; Caenorhabditis elegans; Phenotype; Mutation; Strain (injury); Correlation","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":[0.0005460524,0.0001740427,0.0005244128,0.0003133258,0.00004669697,0.00001015276,0.0005971643,0.0001512321,0.00007766022],"category_scores_gemma":[0.0001244274,0.0001739767,0.00008209058,0.0007392102,0.0002479813,0.000003925844,0.0002977295,0.000102492,3.691478e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003233807,"about_ca_system_score_gemma":0.0003609876,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001100732,"about_ca_topic_score_gemma":0.0009130827,"domain_scores_codex":[0.9984273,0.00008907793,0.0005898552,0.0004234368,0.0002437575,0.0002265362],"domain_scores_gemma":[0.99887,0.00003082419,0.0002107588,0.0005987131,0.0002334979,0.00005619331],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.0000678802,0.00009867021,0.02248367,0.00005453228,0.0004821739,0.000001785413,0.0003474958,0.4789581,0.4956592,0.0003731645,0.000868835,0.0006044555],"study_design_scores_gemma":[0.003479867,0.0005945635,0.1434862,0.0002601163,0.002390948,0.000004645828,0.0009594126,0.574631,0.2684754,0.0039794,0.001114455,0.0006240026],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7965893,0.001131552,0.199573,0.0002099861,0.0001977879,0.0003447572,0.00006552134,0.000002616012,0.001885551],"genre_scores_gemma":[0.9860778,0.0004705969,0.01213338,0.00030851,0.00006307915,0.00001194909,0.0001387481,0.00001578874,0.0007801587],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2271838,"threshold_uncertainty_score":0.7094564,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04750663458945919,"score_gpt":0.3357843673869441,"score_spread":0.2882777327974849,"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."}}