{"id":"W4309163900","doi":"10.3899/jrheum.220513","title":"Genome-Wide Sequencing Identified Rare Genetic Variants for Childhood-Onset Monogenic Lupus","year":2022,"lang":"en","type":"article","venue":"The Journal of Rheumatology","topic":"Systemic Lupus Erythematosus Research","field":"Medicine","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children","funders":"Canadian Institutes of Health Research","keywords":"Exome sequencing; Copy-number variation; Medicine; Genetics; Genome-wide association study; Nonsynonymous substitution; Exome; 1000 Genomes Project; Odds ratio; Single-nucleotide polymorphism; Systemic lupus erythematosus; Biology; Genotype; Gene; Internal medicine; Genome; Mutation; Disease","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":true,"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":[0.000437549,0.0003510236,0.0002451614,0.0008188928,0.0003085395,0.0004202306,0.000257604,0.0003983222,0.001932741],"category_scores_gemma":[0.001670047,0.0001453939,0.0003445555,0.0007940302,0.000240045,0.0001449335,0.0002936485,0.0003508778,0.0002155726],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002332717,"about_ca_system_score_gemma":0.0002830923,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001916362,"about_ca_topic_score_gemma":0.003275258,"domain_scores_codex":[0.9995436,0.00008928732,0.00004906882,0.0001693332,0.00009392206,0.00005477615],"domain_scores_gemma":[0.9992012,0.0003042462,0.0003120573,0.00004512863,0.00005304804,0.00008430952],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002252126,0.00002147921,0.981292,0.00004204246,0.000109394,0.00139765,0.0001029013,0.0003261257,0.01000171,0.000117134,0.0002565426,0.006107862],"study_design_scores_gemma":[0.0000172417,0.00009059396,0.9858251,0.00002827648,0.0001302021,0.008208856,0.0001009983,0.001443037,0.003319064,0.00009754284,0.0007337708,0.000005472088],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997786,0.00034782,0.0008362178,0.00003514352,0.000003758178,0.000007673726,0.0006656999,0.00002304625,0.0002944757],"genre_scores_gemma":[0.9983702,0.0001133533,0.0009278197,0.00001972108,0.000005332321,0.000004949967,0.0004540348,0.000006417944,0.00009806502],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001932741,"threshold_uncertainty_score":0.006465673,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02526937292918927,"score_gpt":0.2800755056940429,"score_spread":0.2548061327648536,"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."}}