{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002476464,0.0001317364,0.0004920012,0.0007582448,0.00008987451,0.00000289788,0.0001520817,0.00004983259,0.00003420289],"category_scores_gemma":[0.0004172435,0.0001351945,0.000065755,0.0005126811,0.00008623062,0.00005396187,0.0002534101,0.0003482055,9.414507e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002945063,"about_ca_system_score_gemma":0.00006156744,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003628677,"about_ca_topic_score_gemma":0.0002382982,"domain_scores_codex":[0.9983695,0.0001142076,0.0003719227,0.0003195739,0.0002696466,0.0005551332],"domain_scores_gemma":[0.9994484,0.0001085404,0.00009507377,0.0002268103,0.00007697244,0.00004426877],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009060593,0.0002326849,0.8841872,0.0001227872,0.0001099773,0.00007815904,0.0005530262,0.001937676,0.0002641449,0.0004618231,0.004966704,0.1061798],"study_design_scores_gemma":[0.004549787,0.001049193,0.9823243,0.00004817692,0.00003234455,0.00007108955,0.002425069,0.001805471,0.0002460066,0.000888152,0.006426226,0.0001341806],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9893303,0.002492063,0.004659932,0.001134721,0.0009042155,0.001010163,0.00003532722,0.00003144468,0.0004018132],"genre_scores_gemma":[0.9619057,0.0001828616,0.03701185,0.00009506111,0.00005304654,0.0002271936,0.00007530297,0.00002560134,0.0004233899],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1060456,"threshold_uncertainty_score":0.5513071,"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."}}