{"id":"W4290997013","doi":"10.1136/annrheumdis-2022-eular.1004","title":"OP0309 WES ANALYSIS OF RARE FAMILIES POINTS TO A PATHOGENIC ROLE FOR THE cGAS/STING-TYPE I IFN AXIS IN SSc","year":2022,"lang":"en","type":"article","venue":"Annals of the Rheumatic Diseases","topic":"Systemic Sclerosis and Related Diseases","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Calgary; Université de Sherbrooke","funders":"Eli Lilly Canada; Sanofi Genzyme; Sandoz Canada; Merck Canada; Bristol-Myers Squibb Canada; Gilead Sciences; Pfizer Canada; Janssen Canada; Sanofi; AbbVie Canada; Amgen; Pfizer; Eli Lilly and Company; Bristol-Myers Squibb","keywords":"Medicine; Genetics; Exome sequencing; Candidate gene; Disease; Population; Gene; In silico; Allele; Sting; Bioinformatics; Biology; Phenotype; Pathology","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":[0.0003551335,0.001711486,0.0005190483,0.001706953,0.001389762,0.001303191,0.0007123598,0.002232099,0.01574632],"category_scores_gemma":[0.002180458,0.0003733394,0.0008528885,0.0009976665,0.0007455596,0.0004985437,0.0006859632,0.00111997,0.001697396],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003686204,"about_ca_system_score_gemma":0.0005550475,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00302713,"about_ca_topic_score_gemma":0.002855797,"domain_scores_codex":[0.9993398,0.00008495581,0.0000689329,0.000227053,0.000186533,0.00009272998],"domain_scores_gemma":[0.9989609,0.0005689114,0.0001736313,0.00007305187,0.00008528915,0.000138239],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001198757,0.0002856416,0.1051053,0.0004218334,0.0005580391,0.5848716,0.002016066,0.001946758,0.2364867,0.005897753,0.006889221,0.05432231],"study_design_scores_gemma":[0.0001858097,0.0004327137,0.1935989,0.000816695,0.001348521,0.6778281,0.001498146,0.00619077,0.0695753,0.008783487,0.0396111,0.0001304903],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.962614,0.00128653,0.007763371,0.001665423,0.0003566302,0.00007863874,0.004118191,0.0005922373,0.02152496],"genre_scores_gemma":[0.9908955,0.0005141393,0.003893186,0.0004077595,0.0001427553,0.00002557398,0.0009675457,0.0001659258,0.002987578],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01574632,"threshold_uncertainty_score":0.05267668,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04285611555118496,"score_gpt":0.3076960035263589,"score_spread":0.2648398879751739,"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."}}