{"id":"W4404856681","doi":"10.1186/s12920-024-02039-7","title":"ASXL1 truncating variants in BOS and myeloid leukemia drive shared disruption of Wnt-signaling pathways but have differential isoform usage of RUNX3","year":2024,"lang":"en","type":"article","venue":"BMC Medical Genomics","topic":"Acute Myeloid Leukemia Research","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"National Institute of General Medical Sciences; National Human Genome Research Institute; Canadian Institutes of Health Research; National Cancer Institute; National Institutes of Health; Epilepsy Research Program of the Ontario Brain Institute; NIH Office of the Director; National Heart, Lung, and Blood Institute; W. M. Keck Foundation","keywords":"Biology; Genetics; Myeloid leukemia; Epigenetics; Wnt signaling pathway; Transcriptome; DNA methylation; Cancer research; 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":[0.0001248519,0.0002618353,0.000232881,0.0004615548,0.0001958106,0.0002817097,0.0001452271,0.0002803315,0.002041106],"category_scores_gemma":[0.0003382784,0.0001110748,0.0002279753,0.0004242179,0.0002913567,0.000109404,0.0002663466,0.0002583284,0.0002305696],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001826628,"about_ca_system_score_gemma":0.0001240186,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005780708,"about_ca_topic_score_gemma":0.001384065,"domain_scores_codex":[0.9997707,0.00002052412,0.00002220178,0.00009539403,0.00005765836,0.0000335437],"domain_scores_gemma":[0.9997786,0.00004493506,0.0001164195,0.00001339679,0.000008449603,0.00003823942],"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":[0.001978151,0.00009430287,0.3200912,0.0001298912,0.0002251126,0.007522368,0.0004218107,0.0005389991,0.653821,0.0004609501,0.0004580441,0.01425818],"study_design_scores_gemma":[0.00007226867,0.0005443144,0.9129539,0.00003061572,0.0002276223,0.03129122,0.0003811618,0.001070261,0.05010779,0.0004729411,0.002828085,0.00001983828],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991104,0.0001425657,0.0001917361,0.00001616832,0.000002056393,0.000004058415,0.000357519,0.000009457558,0.0001660487],"genre_scores_gemma":[0.9988965,0.00007389271,0.0002711426,0.00003087108,0.000003926529,0.000005159361,0.0005060253,0.000007809952,0.0002045978],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002041106,"threshold_uncertainty_score":0.006828189,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03306656954252691,"score_gpt":0.2949023550186909,"score_spread":0.261835785476164,"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."}}