{"id":"W2945448169","doi":"10.3390/jcm8050750","title":"Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review","year":2019,"lang":"en","type":"article","venue":"Journal of Clinical Medicine","topic":"interferon and immune responses","field":"Immunology and Microbiology","cited_by":45,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Ministero della Salute","keywords":"Medicine; Interferon; Gene; Phenotype; Exome sequencing; Mutation; Genetics; Biology; Virology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004118962,0.0008054399,0.0008633289,0.00546881,0.000430801,0.001022949,0.0008297865,0.0009526132,0.001980955],"category_scores_gemma":[0.00106214,0.0004322261,0.0005738362,0.002969791,0.0006730507,0.0005541877,0.0005496701,0.0003555338,0.0007795031],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004062223,"about_ca_system_score_gemma":0.0003842426,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00114282,"about_ca_topic_score_gemma":0.000960816,"domain_scores_codex":[0.9996371,0.00003275953,0.0001211974,0.0001023944,0.00005470505,0.00005186651],"domain_scores_gemma":[0.9993661,0.0001869379,0.0002324901,0.00007034268,0.00007044022,0.00007362288],"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":[0.0004688064,0.0001642561,0.3432108,0.003346744,0.0006919957,0.4078264,0.001320565,0.0004838851,0.01615397,0.0005397002,0.01004145,0.2157514],"study_design_scores_gemma":[0.00004727455,0.00009176671,0.20772,0.0008864076,0.0005989206,0.7626035,0.0003706502,0.0002736935,0.001260417,0.0003536932,0.02572967,0.00006404945],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7378309,0.248337,0.00202161,0.001206941,0.0002690562,0.0001790066,0.001459277,0.0002558421,0.008440407],"genre_scores_gemma":[0.8469144,0.1442929,0.002289707,0.0006305577,0.001070112,0.0001290816,0.003118424,0.00007308952,0.001481803],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00546881,"threshold_uncertainty_score":0.006626964,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02236687706617914,"score_gpt":0.3532484157112079,"score_spread":0.3308815386450288,"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."}}