{"id":"W7113636517","doi":"","title":"Proposal of a Familial Hypercholesterolemia Pediatric Diagnostic Score (FH-PeDS)","year":2025,"lang":"en","type":"article","venue":"Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Familial hypercholesterolemia; Genetic testing; Cohort; Diagnostic test; Genetic diagnosis; Predictive power; Portuguese; Population","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.004295432,0.001159733,0.0007743945,0.003483772,0.0003302878,0.001336801,0.001154957,0.0007396293,0.001639617],"category_scores_gemma":[0.009377044,0.000289665,0.001332476,0.001274416,0.0004323711,0.0006386075,0.001008766,0.000875776,0.0005913864],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001019666,"about_ca_system_score_gemma":0.002549006,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005421253,"about_ca_topic_score_gemma":0.004766051,"domain_scores_codex":[0.9979825,0.0007331317,0.0003059338,0.0003203396,0.0005362778,0.0001216818],"domain_scores_gemma":[0.9966628,0.0008027809,0.0004744172,0.0001267539,0.001641251,0.0002919735],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0007794149,0.0002669211,0.7797374,0.0004803033,0.0005940723,0.0006372396,0.0002212545,0.01087018,0.002452123,0.003932332,0.01348436,0.1865445],"study_design_scores_gemma":[0.000758304,0.002161892,0.768267,0.0007720494,0.001161228,0.004720677,0.000961884,0.1772839,0.00531788,0.00831381,0.03009913,0.000182241],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"methods","genre_scores_codex":[0.7043511,0.003405482,0.2485775,0.004749937,0.001107004,0.002894888,0.02077734,0.001448746,0.012688],"genre_scores_gemma":[0.7787383,0.0007501414,0.2003102,0.0002928189,0.0002119409,0.001183385,0.01701394,0.00006446196,0.001434858],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.005421253,"threshold_uncertainty_score":0.0227167,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04608115004386836,"score_gpt":0.3743764778103501,"score_spread":0.3282953277664817,"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."}}