{"id":"W4311860113","doi":"10.1101/2022.12.15.519823","title":"<i>ASXL1</i> mutations that cause Bohring Opitz Syndrome (BOS) or acute myeloid leukemia share epigenomic and transcriptomic signatures","year":2022,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"National Institutes of Health","keywords":"Transcriptome; Biology; Epigenome; Myeloid leukemia; Epigenetics; DNA methylation; Genetics; Epigenomics; Cancer research; Gene; Bioinformatics; Gene expression","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001663922,0.0001699348,0.000241764,0.0005289753,0.000225903,0.0003060627,0.0001118363,0.0001753173,0.001808272],"category_scores_gemma":[0.0003763423,0.00007561182,0.0002497335,0.0005582974,0.0002054899,0.0001235589,0.0003243709,0.0001959519,0.0002577178],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000178858,"about_ca_system_score_gemma":0.0001378893,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001212859,"about_ca_topic_score_gemma":0.002153793,"domain_scores_codex":[0.999762,0.00002299132,0.00001816276,0.00009082704,0.00005600854,0.00005004607],"domain_scores_gemma":[0.9998341,0.0000382055,0.00007006823,0.00001416449,0.00001796939,0.00002541702],"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":[0.000888896,0.00003460018,0.2730524,0.0002376952,0.000299708,0.0006116816,0.0003473495,0.0007097137,0.7001505,0.0003298768,0.001433997,0.02190353],"study_design_scores_gemma":[0.0000387736,0.0001768,0.9339828,0.00003202254,0.00020509,0.002543296,0.0002997396,0.002148971,0.05332118,0.0005450292,0.006684002,0.00002218446],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940767,0.0004201155,0.001029196,0.00005947405,0.000007513569,0.00001161889,0.003762141,0.00006561897,0.0005676412],"genre_scores_gemma":[0.9927786,0.0001759424,0.001106289,0.0001148264,0.00001027342,0.00003006138,0.005408057,0.00002146325,0.0003544375],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001808272,"threshold_uncertainty_score":0.006049335,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01636150998871921,"score_gpt":0.2377788979808118,"score_spread":0.2214173879920926,"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."}}