{"id":"W3210109771","doi":"10.1111/pai.13694","title":"DNA‐Binding domain mutations confer severe outcome at an early age among STAT1 gain‐of‐function patients","year":2021,"lang":"en","type":"article","venue":"Pediatric Allergy and Immunology","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster Children's Hospital; SickKids Foundation; Hospital for Sick Children; McMaster University; University of Toronto","funders":"Canadian Child Health Clinician Scientist Program; Immunodeficiency Canada; Jeffrey Modell Foundation","keywords":"Medicine; Malignancy; Cohort; Internal medicine; Immunology; Genotype; Oncology; Gene; Genetics; Biology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"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":[0.0002392159,0.0002999013,0.0002774524,0.0007394348,0.0004625555,0.0005862506,0.0001855961,0.0003900137,0.002637433],"category_scores_gemma":[0.0009487827,0.0001178754,0.0003390811,0.0004168124,0.0002987512,0.0002572692,0.0003978572,0.0004912684,0.0003430937],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001993171,"about_ca_system_score_gemma":0.0002556869,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007245274,"about_ca_topic_score_gemma":0.0007389615,"domain_scores_codex":[0.9998285,0.00002168207,0.00001520852,0.00005462058,0.00002507268,0.00005497585],"domain_scores_gemma":[0.999356,0.0001349577,0.000204211,0.00003789696,0.00003833724,0.0002286242],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003171408,0.00002127704,0.9944982,0.000006513421,0.00001405372,0.0009475955,0.00007141233,0.00006723144,0.002657763,0.00003627764,0.00009392489,0.001268734],"study_design_scores_gemma":[0.00001032949,0.0001649353,0.9937622,0.000005866219,0.00002866104,0.004809581,0.00016446,0.0002094026,0.0005258864,0.0000818668,0.000229765,0.000007093523],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994296,0.00007105267,0.00006278281,0.00001645675,0.000003722354,0.000003181931,0.0001225368,0.000003421275,0.0002872769],"genre_scores_gemma":[0.9996769,0.0000291294,0.00003815092,0.0000114445,0.000007272279,0.00000308691,0.0001720774,0.000001794785,0.00006012879],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002637433,"threshold_uncertainty_score":0.008823156,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008609296368029899,"score_gpt":0.2124973405184912,"score_spread":0.2038880441504613,"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."}}