{"id":"W2736161417","doi":"10.1002/art.40208","title":"Brief Report: Clinical and Molecular Phenotypes of Low‐Penetrance Variants of <i><scp>NLRP</scp>3</i>: Diagnostic and Therapeutic Challenges","year":2017,"lang":"en","type":"article","venue":"Arthritis & Rheumatology","topic":"Inflammasome and immune disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":81,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of Allergy and Infectious Diseases; National Institutes of Health; Wenner-Gren Foundation","keywords":"Penetrance; Medicine; Phenotype; Immunology; Genetics; Biology; Gene","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":[],"consensus_categories":[],"category_scores_codex":[0.0003333962,0.0001705021,0.0004818227,0.00003355831,0.0001086658,0.00001619986,0.0002218497,0.0002518054,0.000004026776],"category_scores_gemma":[0.001468219,0.0001777352,0.0000826846,0.00001975872,0.001005461,0.00001026662,0.0001754021,0.0001032846,0.000001658293],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":8.299739e-7,"about_ca_system_score_gemma":0.00005817786,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007135833,"about_ca_topic_score_gemma":0.0001375213,"domain_scores_codex":[0.998553,0.0001159782,0.0005726281,0.0004191485,0.0000871493,0.0002521238],"domain_scores_gemma":[0.998545,0.0001776274,0.0004345092,0.0006757102,0.0001062469,0.00006090361],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001401157,0.0004294323,0.5894416,0.0005678861,0.0006217984,0.0002767922,0.0007493577,0.000005456192,0.1694195,0.013233,0.0002720115,0.224843],"study_design_scores_gemma":[0.005386765,0.001305553,0.8373641,0.0004921756,0.00007580828,0.001409172,0.0003924983,0.00002330534,0.1409125,0.004764505,0.007550656,0.0003229377],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.903266,0.09518676,0.0001095634,0.0001962263,0.0001816354,0.0001488824,0.000009758336,0.000005563548,0.0008955987],"genre_scores_gemma":[0.8952114,0.104513,0.0001302474,0.000072968,0.0000119681,0.000008925041,0.00001414263,0.0000193993,0.0000179228],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2479225,"threshold_uncertainty_score":0.7247833,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01054114052137126,"score_gpt":0.2606372079340191,"score_spread":0.2500960674126478,"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."}}