{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001054279,0.0004822846,0.000215005,0.000597113,0.0002513099,0.0001872739,0.0001329353,0.000409745,0.001342736],"category_scores_gemma":[0.0002624995,0.00013247,0.0001600604,0.0002192352,0.0003262821,0.0001972469,0.0002986738,0.0003499537,0.0001620393],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002244204,"about_ca_system_score_gemma":0.0001213424,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000416934,"about_ca_topic_score_gemma":0.0003432313,"domain_scores_codex":[0.9999094,0.00001184995,0.00001187367,0.0000233183,0.00001537692,0.00002817406],"domain_scores_gemma":[0.9998627,0.0000421555,0.00002952708,0.000009489218,0.000008981958,0.00004715613],"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":[0.000581823,0.0002070927,0.07934672,0.0002382656,0.00008446085,0.6476753,0.0007217884,0.000372914,0.2491892,0.0009955438,0.0008740576,0.01971289],"study_design_scores_gemma":[0.00007587314,0.0007018266,0.1200385,0.00004614402,0.0001044586,0.8344774,0.0003521611,0.001134365,0.03769758,0.0005047028,0.004843361,0.00002363874],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965417,0.0005949338,0.0006508208,0.0001419668,0.00002179753,0.00002530705,0.0001189179,0.00005029238,0.001854393],"genre_scores_gemma":[0.9991356,0.0001867255,0.0002111238,0.00004606332,0.00001863169,0.000004246558,0.00005748835,0.000003474017,0.0003368363],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001342736,"threshold_uncertainty_score":0.004491925,"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."}}