{"id":"W4390080194","doi":"10.1101/2023.12.20.23300096","title":"Human ASXL1 Deficiency Causes Epigenetic Dysfunction, Combined Immunodeficiency and EBV–Associated Hodgkin Lymphoma","year":2023,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary; University of Manitoba; University of Toronto; BC Children's Hospital; University of British Columbia","funders":"Canadian Institutes of Health Research; Genome British Columbia; Michael Smith Health Research BC; BC Children's Hospital; Children's Hospital Foundation","keywords":"Biology; Immunodeficiency; Epigenetics; Immunology; Lymphoma; DNA methylation; Severe combined immunodeficiency; Cancer research; Immunophenotyping; Immune system; Genetics; Gene; Gene expression","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","sts","research_integrity","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.001398009,0.0009639066,0.001201914,0.0006399896,0.001591514,0.0001651552,0.001215911,0.001380732,0.0003741372],"category_scores_gemma":[0.0006104939,0.0009550328,0.0004004693,0.0007013578,0.001107643,0.0001158233,0.001477398,0.001162453,0.0009858013],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001833111,"about_ca_system_score_gemma":0.0003274975,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001422792,"about_ca_topic_score_gemma":0.00007468183,"domain_scores_codex":[0.9948418,0.0007299708,0.001354525,0.001511893,0.000215485,0.00134635],"domain_scores_gemma":[0.9972337,0.0002604728,0.0007865753,0.001406099,0.0002839068,0.00002924686],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0004988973,0.006819296,0.1434013,0.001429717,0.002975914,0.0001901571,0.01326714,0.001582413,0.7896029,0.007249608,0.003738873,0.02924385],"study_design_scores_gemma":[0.004601792,0.0006983011,0.9711612,0.0005502904,0.0005019195,0.00004969141,0.001472181,0.00006811445,0.008627801,0.00592438,0.004433284,0.001911055],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9343703,0.05746893,0.0001380334,0.0002849366,0.004842578,0.0007889483,0.0001437771,0.0008649755,0.001097475],"genre_scores_gemma":[0.9894574,0.001203768,0.000008412026,0.0001294066,0.00001111126,0.0002044005,0.0009343695,0.000147945,0.007903246],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8277599,"threshold_uncertainty_score":0.9999157,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02259516084046937,"score_gpt":0.2514570564394392,"score_spread":0.2288618955989699,"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."}}