{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0000733418,0.0003968609,0.0001680966,0.0002098193,0.0001304619,0.0003205836,0.0001430824,0.000490994,0.001712344],"category_scores_gemma":[0.0001168818,0.0000697852,0.0002217352,0.0001726697,0.0003707181,0.0001596832,0.0002187327,0.0005416351,0.0004597453],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001822152,"about_ca_system_score_gemma":0.0001535732,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003442117,"about_ca_topic_score_gemma":0.0004714226,"domain_scores_codex":[0.9999521,0.000006090817,0.000004513878,0.00001148707,0.00001174695,0.00001406217],"domain_scores_gemma":[0.9999187,0.00001881063,0.00002461428,0.000006586465,0.000005314496,0.00002595579],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001309912,0.00009012094,0.01724747,0.000145308,0.00006221266,0.01838052,0.0001120938,0.0007049457,0.9146145,0.003013689,0.003058852,0.04126044],"study_design_scores_gemma":[0.0005278014,0.0019906,0.3211087,0.0002827562,0.0005942836,0.2593475,0.0008664192,0.006286225,0.3165126,0.01360969,0.07874931,0.0001242508],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9831293,0.00591283,0.002145841,0.001620576,0.0001492346,0.00001677593,0.0008626704,0.0002200244,0.005942761],"genre_scores_gemma":[0.9954138,0.001954075,0.0004265634,0.0003973139,0.00007064116,0.000003708663,0.0002951221,0.00002369502,0.001415109],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001712344,"threshold_uncertainty_score":0.005728364,"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."}}