{"id":"W4229006729","doi":"10.3389/fendo.2022.887371","title":"Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population","year":2022,"lang":"en","type":"article","venue":"Frontiers in Endocrinology","topic":"Vitamin D Research Studies","field":"Medicine","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Cégep de Chicoutimi; Cégep de Jonquière; Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean; Université de Sherbrooke","funders":"Faculty of Medicine and Health, University of Sydney; Faculty of Medical and Health Sciences, University of Auckland; Fondation du Grand défi Pierre Lavoie","keywords":"Rickets; Medicine; Population; Founder effect; Vitamin D and neurology; vitamin D deficiency; Newborn screening; Pediatrics; Physiology; Endocrinology; Biology; Genetics; Environmental health; Gene; Genotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0009655121,0.0003367865,0.0002572003,0.0005295441,0.0005746506,0.0002955553,0.0002176934,0.0004198548,0.002589446],"category_scores_gemma":[0.004322541,0.00007455922,0.0001957861,0.000237874,0.0002482999,0.0003219223,0.0003074009,0.0003342496,0.0002450735],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003187742,"about_ca_system_score_gemma":0.0005880884,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006551255,"about_ca_topic_score_gemma":0.004608236,"domain_scores_codex":[0.9994752,0.0002473085,0.00003312383,0.00008808197,0.00008438701,0.00007191763],"domain_scores_gemma":[0.9988093,0.0004129188,0.0002471645,0.00006699998,0.0001983656,0.0002652424],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000294035,0.0003064507,0.9559761,0.00005638133,0.00002175959,0.002422268,0.0004219263,0.00009964342,0.002446525,0.0001189204,0.0009415647,0.03689447],"study_design_scores_gemma":[0.00002423975,0.001037469,0.9847622,0.0001037123,0.00009180724,0.009258578,0.00103597,0.0005956601,0.0007720759,0.0001946356,0.002108939,0.00001477948],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963346,0.0007983406,0.0003614293,0.0005915278,0.00003069896,0.00002918254,0.000141937,0.00002370655,0.00168876],"genre_scores_gemma":[0.9989622,0.0002301289,0.0003151518,0.0000784677,0.00001902734,0.00001124083,0.00006558516,0.000002443493,0.0003157737],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006551255,"threshold_uncertainty_score":0.01302624,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03848716224970016,"score_gpt":0.3168859469104413,"score_spread":0.2783987846607411,"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."}}