{"id":"W2966453295","doi":"10.1007/s10875-019-00667-8","title":"LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency","year":2019,"lang":"en","type":"letter","venue":"Journal of Clinical Immunology","topic":"interferon and immune responses","field":"Immunology and Microbiology","cited_by":6,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"National Institute of Allergy and Infectious Diseases; Fonds de Recherche en Santé Respiratoire; Agence Nationale de la Recherche","keywords":"Genetics; Medical microbiology; Medicine; Biology; Immunology","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","research_integrity","insufficient_payload"],"consensus_categories":["research_integrity","insufficient_payload"],"category_scores_codex":[0.002167158,0.0007259888,0.003009068,0.0008321233,0.0002380382,0.00006194164,0.001693196,0.005340715,0.001759211],"category_scores_gemma":[0.005328376,0.0005736302,0.001469842,0.0002838684,0.001212029,0.0002937513,0.0003767425,0.01238713,0.004125224],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001796999,"about_ca_system_score_gemma":0.00127822,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004775428,"about_ca_topic_score_gemma":0.000007980633,"domain_scores_codex":[0.9889082,0.004222217,0.004887633,0.0006623889,0.0002146674,0.001104885],"domain_scores_gemma":[0.9858729,0.007088433,0.005098317,0.0008572894,0.001041435,0.00004159099],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.005767189,0.0005946965,0.0009192477,0.0001250967,0.003852633,0.0008179356,0.000187593,0.000008133075,0.08864239,0.00006775888,0.887993,0.01102431],"study_design_scores_gemma":[0.005711547,0.006998995,0.009298441,0.0005855953,0.0005188994,0.002072651,0.0001913074,0.000009301281,0.001374705,0.0001954264,0.9723799,0.0006632105],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.4273869,0.04287875,0.0007868019,0.4613921,0.06325639,0.001007881,0.0002326976,0.0001993698,0.002859144],"genre_scores_gemma":[0.4332733,0.009141541,0.0003838074,0.5252284,0.00434057,0.00002496421,0.001483291,0.0003321379,0.02579208],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.08726769,"threshold_uncertainty_score":0.9996715,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1225078339511749,"score_gpt":0.3811783042779783,"score_spread":0.2586704703268034,"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."}}