{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001992519,0.0003001398,0.0004833987,0.0002321495,0.0006359282,0.00002346301,0.0002213169,0.0004879672,0.0008794683],"category_scores_gemma":[0.0001106859,0.000303427,0.0001356918,0.000316471,0.0004922587,0.0003096332,0.000235111,0.0004145577,0.0001616462],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006644516,"about_ca_system_score_gemma":0.0001239883,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001848031,"about_ca_topic_score_gemma":0.00005993728,"domain_scores_codex":[0.9977527,0.0004197103,0.0006915472,0.0005031374,0.00006685458,0.0005660504],"domain_scores_gemma":[0.9988811,0.0001715495,0.0003317649,0.0003982833,0.00019921,0.00001807923],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001373229,0.002119344,0.7985716,0.0001169066,0.002042142,0.00007542018,0.01272895,0.00008717352,0.164458,0.009310728,0.0002435627,0.008872899],"study_design_scores_gemma":[0.004258902,0.0006111417,0.9820995,0.00001004431,0.000141913,0.00003774397,0.002316793,0.000002814876,0.002418922,0.0007313667,0.006874842,0.000496065],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9865742,0.01044602,0.0001498705,0.00004053612,0.001268497,0.0001874403,0.00006047363,0.00007322843,0.001199702],"genre_scores_gemma":[0.9935837,0.0007006161,0.0000341244,0.00007089147,0.00001124923,0.00002877675,0.001291779,0.00002933153,0.004249518],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1835278,"threshold_uncertainty_score":0.9999418,"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."}}