{"id":"W2884305526","doi":"10.3899/jrheum.171358","title":"Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus","year":2018,"lang":"en","type":"article","venue":"The Journal of Rheumatology","topic":"Systemic Lupus Erythematosus Research","field":"Medicine","cited_by":61,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Exome sequencing; Sanger sequencing; Medicine; Missense mutation; Frameshift mutation; Exon; Exome; Genetics; Immunology; Gene; DNA sequencing; Mutation; Biology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003248281,0.000214085,0.001014762,0.0005885022,0.0001063485,0.00002064322,0.0005353984,0.0001974173,0.00009080402],"category_scores_gemma":[0.0007764503,0.0001297273,0.000148313,0.0005136908,0.0004571775,0.0001342227,0.0001223237,0.0007091104,0.0003999722],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005827289,"about_ca_system_score_gemma":0.0007629292,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003071358,"about_ca_topic_score_gemma":0.000117189,"domain_scores_codex":[0.9966723,0.0006536391,0.001274463,0.0001739951,0.0006269739,0.0005985789],"domain_scores_gemma":[0.9972475,0.0007687019,0.000664762,0.0005974561,0.0005203096,0.0002012319],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0007945169,0.00004076926,0.98145,0.0004629766,0.0001394202,0.0002540139,0.01020417,0.000006740189,0.003567848,0.0001210472,0.00287816,0.00008033982],"study_design_scores_gemma":[0.003120914,0.000663442,0.002999788,0.003244307,0.00006317443,0.9812482,0.007083497,0.0002590806,0.000448804,0.0004832137,0.0002648158,0.0001207563],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948817,0.001890002,0.0002593551,0.0009186856,0.001030773,0.000381714,0.000002336688,0.00002595725,0.0006094602],"genre_scores_gemma":[0.9985713,0.0003887947,0.0001970908,0.00008118645,0.00006554951,0.000006554739,7.64103e-7,0.00004262821,0.0006461204],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9809942,"threshold_uncertainty_score":0.5290125,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02860860644005084,"score_gpt":0.2979196632340779,"score_spread":0.2693110567940271,"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."}}