{"id":"W2151645052","doi":"10.1038/ng.2754","title":"A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia","year":2013,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Acute Lymphoblastic Leukemia research","field":"Medicine","cited_by":329,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Health and Medical Research Council; KWF Kankerbestrijding; National Cancer Institute; National Institutes of Health; Canadian Institutes of Health Research; Geoffrey Beene Cancer Research Center; American Lebanese Syrian Associated Charities; National Institute of General Medical Sciences; Medical Research Council; Deutsche Forschungsgemeinschaft; St. Jude Children's Research Hospital","keywords":"Biology; PAX5; Loss of heterozygosity; Germline; Germline mutation; Genetics; Mutation; Allele; Molecular biology; B cell; Somatic cell; Cancer research; Gene; Transcription factor; Antibody","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","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0002780948,0.0004045684,0.0004903835,0.000259492,0.0001062381,0.00008494701,0.0003605567,0.0007291611,0.0006311262],"category_scores_gemma":[0.0005124124,0.0003451846,0.000162523,0.0006184534,0.0001492775,0.00008389849,0.0002333767,0.0009651477,0.0009448614],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002566941,"about_ca_system_score_gemma":0.001833739,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008844721,"about_ca_topic_score_gemma":0.00003776736,"domain_scores_codex":[0.9966226,0.00009992473,0.0005672163,0.0008134798,0.001087128,0.0008096769],"domain_scores_gemma":[0.9969213,0.0002445709,0.0001308686,0.0009323059,0.0009822786,0.0007886647],"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":[0.005000787,0.001687429,0.03300292,0.00240761,0.001204437,0.0009992658,0.005570712,0.003104184,0.4125735,0.0001451005,0.3617575,0.1725466],"study_design_scores_gemma":[0.02598623,0.008912947,0.5390075,0.0006874392,0.001703586,0.0009913092,0.0007176167,0.1343007,0.2508489,0.001257061,0.03315454,0.002432087],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9897208,0.000705377,0.003697095,0.001203169,0.0006596623,0.002301341,0.00006479107,0.0001430763,0.001504642],"genre_scores_gemma":[0.9831799,0.0001632217,0.01155674,0.001904971,0.0005252,0.0001498849,0.0001982038,0.00008039596,0.002241533],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5060046,"threshold_uncertainty_score":0.9999,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009473553381522998,"score_gpt":0.2931197454918782,"score_spread":0.2836461921103552,"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."}}