{"id":"W4391036002","doi":"10.1016/j.it.2023.12.003","title":"Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond","year":2024,"lang":"en","type":"article","venue":"Trends in Immunology","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":43,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Canadian Institutes of Health Research; National Institutes of Health; Université de Paris; Institut National Du Cancer; Fondation Schlumberger pour l’Education et la Recherche; Thailand Science Research and Innovation; Marmara Üniversitesi; Institut des maladies génétiques Imagine; University of British Columbia; Chulalongkorn University; Croucher Foundation; Institut National de la Santé et de la Recherche Médicale; Agence Nationale de la Recherche; Japan Agency for Medical Research and Development; Genome British Columbia; Agence Nationale de Recherches sur le Sida et les Hépatites Virales; BC Children's Hospital; BC Children’s Hospital Foundation; Rockefeller University; Li Ka Shing Foundation; St. Giles Foundation; Government of Canada; Children's Hospital Foundation; Howard Hughes Medical Institute","keywords":"STAT6; STAT protein; Disease; Immunology; Immune system; Phenotype; Germline; Medicine; Gain of function; Allergy; Biology; Interleukin 4; Genetics; STAT3; Internal medicine; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0002070778,0.0002586149,0.0004266724,0.0009427571,0.00009090124,0.00001550252,0.0002411593,0.0002715697,0.001050158],"category_scores_gemma":[0.00003249602,0.0002554332,0.00008714727,0.0006484498,0.0003176659,0.0001259627,0.0001768777,0.0003197171,0.000137962],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007245791,"about_ca_system_score_gemma":0.00006534297,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00100815,"about_ca_topic_score_gemma":0.0002136241,"domain_scores_codex":[0.9981983,0.0002194721,0.0005602213,0.000521287,0.00003749602,0.0004632304],"domain_scores_gemma":[0.9993947,0.0001258665,0.00006653294,0.0003802148,0.0000211347,0.00001162161],"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":[0.003634546,0.001294861,0.004300298,0.00008688078,0.0006029024,0.0001706983,0.008803103,0.0004571184,0.379446,0.01845853,0.0008950721,0.58185],"study_design_scores_gemma":[0.01113038,0.0007936242,0.9278243,0.0003235035,0.000107407,0.00003975586,0.00203351,0.0001085024,0.002928165,0.00849986,0.04540198,0.0008090565],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8987526,0.09796102,0.00002721579,0.0004537572,0.001027098,0.0001413189,0.00007463165,0.00007532861,0.001487072],"genre_scores_gemma":[0.996467,0.000268875,0.00001653088,0.0001305901,0.000005079929,0.00005649834,0.0004232911,0.00002638832,0.002605762],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.923524,"threshold_uncertainty_score":0.9999898,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01025666600599718,"score_gpt":0.2560545618451578,"score_spread":0.2457978958391606,"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."}}