{"id":"W4393952545","doi":"10.1016/j.ymgme.2024.108165","title":"Applying phenotypic evidence to support the molecular diagnosis of inborn errors of metabolism (IEMS) across diverse clinical contexts: The ClinGen IEM variant curation expert panel (VCEP) experience","year":2024,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"","keywords":"Genetic heterogeneity; Phenotype; Medicine; Psychology; Genetics; Biology","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":[0.08361696,0.001158248,0.001859362,0.006632901,0.001215672,0.006738623,0.004834074,0.003181939,0.002576786],"category_scores_gemma":[0.1141228,0.0006174828,0.001613086,0.003198601,0.001674092,0.003324134,0.006253014,0.00606784,0.0009916839],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00186066,"about_ca_system_score_gemma":0.006310784,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005502264,"about_ca_topic_score_gemma":0.01208633,"domain_scores_codex":[0.979682,0.009139053,0.003192625,0.002707068,0.004554445,0.0007248098],"domain_scores_gemma":[0.8666423,0.07481996,0.004643909,0.008616226,0.04089915,0.004378446],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.001171988,0.0002339648,0.07474548,0.002802871,0.001966977,0.003579325,0.001928732,0.003950883,0.01052792,0.01309894,0.1164819,0.7695111],"study_design_scores_gemma":[0.0007193167,0.0008197746,0.09704397,0.02486452,0.003815811,0.0142046,0.004249977,0.01407001,0.01714062,0.1025356,0.7200728,0.0004629236],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.1234585,0.2697996,0.1525824,0.3674257,0.007570922,0.001540981,0.011616,0.001680349,0.06432567],"genre_scores_gemma":[0.4792125,0.0941366,0.3107036,0.08679565,0.007437372,0.0006416211,0.01466115,0.001236842,0.005174697],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.08361696,"threshold_uncertainty_score":0.442214,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05259349293854638,"score_gpt":0.362921133967638,"score_spread":0.3103276410290917,"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."}}